LymphedemaV1, PascalFrancis, Curation, bibRecord, 000725

Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases

Identifieur interne : 000725 ( PascalFrancis/Curation ); précédent : 000724; suivant : 000726

Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases

Auteurs : Sahar Mansour [Royaume-Uni] ; Fiona Connell [Royaume-Uni] ; Colin Steward [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Sarah Smithson [Royaume-Uni] ; Peter Lunt [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Inderjeet Dokal [Royaume-Uni] ; Tom Vulliamy [Royaume-Uni] ; Brenda Gibson [Royaume-Uni] ; Shirley Hodgson [Royaume-Uni] ; Sally Cottrell [Royaume-Uni] ; Louise Kiely [Royaume-Uni] ; Lorna Tinworth [Royaume-Uni] ; Kamini Kalidas [Royaume-Uni] ; Ghulam Mufti [Royaume-Uni] ; Jackie Cornish [Royaume-Uni] ; Russell Keenan [Royaume-Uni] ; Peter Mortimer [Royaume-Uni] ; Victoria Murday [Royaume-Uni]

Source :

American journal of medical genetics. Part A [ 1552-4825 ] ; 2010.

RBID : Pascal:10-0410899

Descripteurs français

Pascal (Inist)
- Lymphoedème, Syndrome myélodysplasique, Leucémie aiguë myéloblastique, Monosomie, Etude cas.

English descriptors

KwdEn :
- Acute myelogenous leukemia, Case study, Lymphedema, Monosomy, Myelodysplastic syndrome.

Abstract

Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency.

A01	`01`	`1`		`@0 1552-4825`
A03		`1`		`@0 Am. j. med. genet., Part A`
A05				`@2 152`
A06				`@2 9`
A08	`01`	`1`	`ENG`	`@1 Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases`
A11	`01`	`1`		`@1 MANSOUR (Sahar)`
A11	`02`	`1`		`@1 CONNELL (Fiona)`
A11	`03`	`1`		`@1 STEWARD (Colin)`
A11	`04`	`1`		`@1 OSTERGAARD (Pia)`
A11	`05`	`1`		`@1 BRICE (Glen)`
A11	`06`	`1`		`@1 SMITHSON (Sarah)`
A11	`07`	`1`		`@1 LUNT (Peter)`
A11	`08`	`1`		`@1 JEFFERY (Steve)`
A11	`09`	`1`		`@1 DOKAL (Inderjeet)`
A11	`10`	`1`		`@1 VULLIAMY (Tom)`
A11	`11`	`1`		`@1 GIBSON (Brenda)`
A11	`12`	`1`		`@1 HODGSON (Shirley)`
A11	`13`	`1`		`@1 COTTRELL (Sally)`
A11	`14`	`1`		`@1 KIELY (Louise)`
A11	`15`	`1`		`@1 TINWORTH (Lorna)`
A11	`16`	`1`		`@1 KALIDAS (Kamini)`
A11	`17`	`1`		`@1 MUFTI (Ghulam)`
A11	`18`	`1`		`@1 CORNISH (Jackie)`
A11	`19`	`1`		`@1 KEENAN (Russell)`
A11	`20`	`1`		`@1 MORTIMER (Peter)`
A11	`21`	`1`		`@1 MURDAY (Victoria)`
A14	`01`			`@1 SW Thames Regional Genetics Service, St. George's, University of London @2 London @3 GBR @Z 1 aut. @Z 2 aut. @Z 4 aut. @Z 5 aut. @Z 8 aut. @Z 12 aut. @Z 13 aut. @Z 14 aut. @Z 15 aut. @Z 16 aut.`
A14	`02`			`@1 Bone Marrow Transplant Unit, Royal Hospital for Children @2 Bristol @3 GBR @Z 3 aut. @Z 18 aut.`
A14	`03`			`@1 Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill @2 Bristol @3 GBR @Z 6 aut. @Z 7 aut.`
A14	`04`			`@1 Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry @2 London @3 GBR @Z 9 aut. @Z 10 aut.`
A14	`05`			`@1 Department of Haematology, Yorkhill Hospital @2 Glasgow @3 GBR @Z 11 aut.`
A14	`06`			`@1 Department of Haematology, School of Medicine, King's College Hospital @2 London @3 GBR @Z 17 aut.`
A14	`07`			`@1 Department of Paediatric Haematology, Aiderhey Children's Hospital @2 Liverpool @3 GBR @Z 19 aut.`
A14	`08`			`@1 Department of Cardiac and Vascular Sciences, St. George's, University of London @2 London @3 GBR @Z 20 aut.`
A14	`09`			`@1 Department of Clinical Genetics, Yorkhill Hospital @2 Glasgow @3 GBR @Z 21 aut.`
A17	`01`	`1`		`@1 Lymphoedema Research Consortium @3 INC`
A20				`@1 2287-2296`
A21				`@1 2010`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 17405A @5 354000192599780180`
A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
A45				`@0 1 p.1/4`
A47	`01`	`1`		`@0 10-0410899`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 American journal of medical genetics. Part A`
A66	`01`			`@0 GBR`
C01	`01`		`ENG`	@0 Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency.
C02	`01`	`X`		`@0 002B23B`
C02	`02`	`X`		`@0 002B12B04`
C02	`03`	`X`		`@0 002B19B`
C03	`01`	`X`	`FRE`	`@0 Lymphoedème @5 01`
C03	`01`	`X`	`ENG`	`@0 Lymphedema @5 01`
C03	`01`	`X`	`SPA`	`@0 Linfedema @5 01`
C03	`02`	`X`	`FRE`	`@0 Syndrome myélodysplasique @5 02`
C03	`02`	`X`	`ENG`	`@0 Myelodysplastic syndrome @5 02`
C03	`02`	`X`	`SPA`	`@0 Mielodisplastico síndrome @5 02`
C03	`03`	`X`	`FRE`	`@0 Leucémie aiguë myéloblastique @5 03`
C03	`03`	`X`	`ENG`	`@0 Acute myelogenous leukemia @5 03`
C03	`03`	`X`	`SPA`	`@0 Leucemia aguda mieloblástica @5 03`
C03	`04`	`X`	`FRE`	`@0 Monosomie @5 04`
C03	`04`	`X`	`ENG`	`@0 Monosomy @5 04`
C03	`04`	`X`	`SPA`	`@0 Monosomía @5 04`
C03	`05`	`X`	`FRE`	`@0 Etude cas @5 09`
C03	`05`	`X`	`ENG`	`@0 Case study @5 09`
C03	`05`	`X`	`SPA`	`@0 Estudio caso @5 09`
C07	`01`	`X`	`FRE`	`@0 Aneuploïdie`
C07	`01`	`X`	`ENG`	`@0 Aneuploidy`
C07	`01`	`X`	`SPA`	`@0 Aneuploidía`
C07	`02`	`X`	`FRE`	`@0 Aberration chromosomique`
C07	`02`	`X`	`ENG`	`@0 Chromosomal aberration`
C07	`02`	`X`	`SPA`	`@0 Aberración cromosómica`
C07	`03`	`X`	`FRE`	`@0 Pathologie de l'appareil circulatoire @5 37`
C07	`03`	`X`	`ENG`	`@0 Cardiovascular disease @5 37`
C07	`03`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 37`
C07	`04`	`X`	`FRE`	`@0 Pathologie des vaisseaux lymphatiques @5 38`
C07	`04`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 38`
C07	`04`	`X`	`SPA`	`@0 Linfático patología @5 38`
C07	`05`	`X`	`FRE`	`@0 Hémopathie maligne @2 NM @5 39`
C07	`05`	`X`	`ENG`	`@0 Malignant hemopathy @2 NM @5 39`
C07	`05`	`X`	`SPA`	`@0 Hemopatía maligna @2 NM @5 39`
C07	`06`	`X`	`FRE`	`@0 Cancer @2 NM`
C07	`06`	`X`	`ENG`	`@0 Cancer @2 NM`
C07	`06`	`X`	`SPA`	`@0 Cáncer @2 NM`
N21				`@1 263`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000233

Links to Exploration step

Pascal:10-0410899

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases</title>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Connell, Fiona" sort="Connell, Fiona" uniqKey="Connell F" first="Fiona" last="Connell">Fiona Connell</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Steward, Colin" sort="Steward, Colin" uniqKey="Steward C" first="Colin" last="Steward">Colin Steward</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Bone Marrow Transplant Unit, Royal Hospital for Children</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Dokal, Inderjeet" sort="Dokal, Inderjeet" uniqKey="Dokal I" first="Inderjeet" last="Dokal">Inderjeet Dokal</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Vulliamy, Tom" sort="Vulliamy, Tom" uniqKey="Vulliamy T" first="Tom" last="Vulliamy">Tom Vulliamy</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Gibson, Brenda" sort="Gibson, Brenda" uniqKey="Gibson B" first="Brenda" last="Gibson">Brenda Gibson</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Haematology, Yorkhill Hospital</s1>
<s2>Glasgow</s2>
<s3>GBR</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Cottrell, Sally" sort="Cottrell, Sally" uniqKey="Cottrell S" first="Sally" last="Cottrell">Sally Cottrell</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Kiely, Louise" sort="Kiely, Louise" uniqKey="Kiely L" first="Louise" last="Kiely">Louise Kiely</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Tinworth, Lorna" sort="Tinworth, Lorna" uniqKey="Tinworth L" first="Lorna" last="Tinworth">Lorna Tinworth</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mufti, Ghulam" sort="Mufti, Ghulam" uniqKey="Mufti G" first="Ghulam" last="Mufti">Ghulam Mufti</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Haematology, School of Medicine, King's College Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Cornish, Jackie" sort="Cornish, Jackie" uniqKey="Cornish J" first="Jackie" last="Cornish">Jackie Cornish</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Bone Marrow Transplant Unit, Royal Hospital for Children</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Paediatric Haematology, Aiderhey Children's Hospital</s1>
<s2>Liverpool</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Cardiac and Vascular Sciences, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Murday, Victoria" sort="Murday, Victoria" uniqKey="Murday V" first="Victoria" last="Murday">Victoria Murday</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Clinical Genetics, Yorkhill Hospital</s1>
<s2>Glasgow</s2>
<s3>GBR</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">10-0410899</idno>
<date when="2010">2010</date>
<idno type="stanalyst">PASCAL 10-0410899 INIST</idno>
<idno type="RBID">Pascal:10-0410899</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000233</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000725</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases</title>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Connell, Fiona" sort="Connell, Fiona" uniqKey="Connell F" first="Fiona" last="Connell">Fiona Connell</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Steward, Colin" sort="Steward, Colin" uniqKey="Steward C" first="Colin" last="Steward">Colin Steward</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Bone Marrow Transplant Unit, Royal Hospital for Children</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Dokal, Inderjeet" sort="Dokal, Inderjeet" uniqKey="Dokal I" first="Inderjeet" last="Dokal">Inderjeet Dokal</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Vulliamy, Tom" sort="Vulliamy, Tom" uniqKey="Vulliamy T" first="Tom" last="Vulliamy">Tom Vulliamy</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Gibson, Brenda" sort="Gibson, Brenda" uniqKey="Gibson B" first="Brenda" last="Gibson">Brenda Gibson</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Haematology, Yorkhill Hospital</s1>
<s2>Glasgow</s2>
<s3>GBR</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Cottrell, Sally" sort="Cottrell, Sally" uniqKey="Cottrell S" first="Sally" last="Cottrell">Sally Cottrell</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Kiely, Louise" sort="Kiely, Louise" uniqKey="Kiely L" first="Louise" last="Kiely">Louise Kiely</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Tinworth, Lorna" sort="Tinworth, Lorna" uniqKey="Tinworth L" first="Lorna" last="Tinworth">Lorna Tinworth</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mufti, Ghulam" sort="Mufti, Ghulam" uniqKey="Mufti G" first="Ghulam" last="Mufti">Ghulam Mufti</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Haematology, School of Medicine, King's College Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Cornish, Jackie" sort="Cornish, Jackie" uniqKey="Cornish J" first="Jackie" last="Cornish">Jackie Cornish</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Bone Marrow Transplant Unit, Royal Hospital for Children</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Paediatric Haematology, Aiderhey Children's Hospital</s1>
<s2>Liverpool</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Cardiac and Vascular Sciences, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Murday, Victoria" sort="Murday, Victoria" uniqKey="Murday V" first="Victoria" last="Murday">Victoria Murday</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Clinical Genetics, Yorkhill Hospital</s1>
<s2>Glasgow</s2>
<s3>GBR</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of medical genetics. Part A</title>
<title level="j" type="abbreviated">Am. j. med. genet., Part A</title>
<idno type="ISSN">1552-4825</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of medical genetics. Part A</title>
<title level="j" type="abbreviated">Am. j. med. genet., Part A</title>
<idno type="ISSN">1552-4825</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acute myelogenous leukemia</term>
<term>Case study</term>
<term>Lymphedema</term>
<term>Monosomy</term>
<term>Myelodysplastic syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Lymphoedème</term>
<term>Syndrome myélodysplasique</term>
<term>Leucémie aiguë myéloblastique</term>
<term>Monosomie</term>
<term>Etude cas</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>1552-4825</s0>
</fA01>
<fA03 i2="1"><s0>Am. j. med. genet., Part A</s0>
</fA03>
<fA05><s2>152</s2>
</fA05>
<fA06><s2>9</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>MANSOUR (Sahar)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>CONNELL (Fiona)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>STEWARD (Colin)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>OSTERGAARD (Pia)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>BRICE (Glen)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>SMITHSON (Sarah)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>LUNT (Peter)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>JEFFERY (Steve)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>DOKAL (Inderjeet)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>VULLIAMY (Tom)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>GIBSON (Brenda)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>HODGSON (Shirley)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>COTTRELL (Sally)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>KIELY (Louise)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>TINWORTH (Lorna)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>KALIDAS (Kamini)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>MUFTI (Ghulam)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>CORNISH (Jackie)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>KEENAN (Russell)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>MORTIMER (Peter)</s1>
</fA11>
<fA11 i1="21" i2="1"><s1>MURDAY (Victoria)</s1>
</fA11>
<fA14 i1="01"><s1>SW Thames Regional Genetics Service, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Bone Marrow Transplant Unit, Royal Hospital for Children</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Haematology, Yorkhill Hospital</s1>
<s2>Glasgow</s2>
<s3>GBR</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Haematology, School of Medicine, King's College Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Paediatric Haematology, Aiderhey Children's Hospital</s1>
<s2>Liverpool</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Cardiac and Vascular Sciences, St. George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>20 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Department of Clinical Genetics, Yorkhill Hospital</s1>
<s2>Glasgow</s2>
<s3>GBR</s3>
<sZ>21 aut.</sZ>
</fA14>
<fA17 i1="01" i2="1"><s1>Lymphoedema Research Consortium</s1>
<s3>INC</s3>
</fA17>
<fA20><s1>2287-2296</s1>
</fA20>
<fA21><s1>2010</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>17405A</s2>
<s5>354000192599780180</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>1 p.1/4</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>10-0410899</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>American journal of medical genetics. Part A</s0>
</fA64>
<fA66 i1="01"><s0>GBR</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B23B</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B12B04</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B19B</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Syndrome myélodysplasique</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Myelodysplastic syndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Mielodisplastico síndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Leucémie aiguë myéloblastique</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Acute myelogenous leukemia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Leucemia aguda mieloblástica</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Monosomie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Monosomy</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Monosomía</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Etude cas</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Case study</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Estudio caso</s0>
<s5>09</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Aneuploïdie</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Aneuploidy</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Aneuploidía</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Aberration chromosomique</s0>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Chromosomal aberration</s0>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Aberración cromosómica</s0>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie de l'appareil circulatoire</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie des vaisseaux lymphatiques</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Hémopathie maligne</s0>
<s2>NM</s2>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Malignant hemopathy</s0>
<s2>NM</s2>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Hemopatía maligna</s0>
<s2>NM</s2>
<s5>39</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Cancer</s0>
<s2>NM</s2>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Cancer</s0>
<s2>NM</s2>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Cáncer</s0>
<s2>NM</s2>
</fC07>
<fN21><s1>263</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PascalFrancis/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000725 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Curation/biblio.hfd -nk 000725 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    PascalFrancis
   |étape=   Curation
   |type=    RBID
   |clé=     Pascal:10-0410899
   |texte=   Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases
}}

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur le lymphœdème

Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases

Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri