Lymphedema-distichiasis syndrome and FOXC2 gene mutation.
Identifieur interne : 000B32 ( Ncbi/Checkpoint ); précédent : 000B31; suivant : 000B33Lymphedema-distichiasis syndrome and FOXC2 gene mutation.
Auteurs : Elias I. Traboulsi [États-Unis] ; Khouloud Al-Khayer ; Masayuki Matsumoto ; Mark A. Kimak ; Susan Crowe ; Steven E. Wilson ; David N. Finegold ; Robert E. Ferrell ; David M. MeislerSource :
- American journal of ophthalmology [ 0002-9394 ] ; 2002.
Descripteurs français
- KwdFr :
- Adulte d'âge moyen, Cils (anatomopathologie), Cils (malformations), Enfant, Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Femelle, Humains, Lymphoedème (), Lymphoedème (génétique), Malformations (anatomopathologie), Malformations (génétique), Mutation (génétique), Mâle, Pedigree, Protéines de liaison à l'ADN (génétique), Syndrome, Séquence nucléotidique.
- MESH :
- anatomopathologie : Cils, Malformations.
- génétique : Facteurs de transcription, Lymphoedème, Malformations, Mutation, Protéines de liaison à l'ADN.
- malformations : Cils.
- Adulte d'âge moyen, Enfant, Facteurs de transcription Forkhead, Femelle, Humains, Lymphoedème, Mâle, Pedigree, Syndrome, Séquence nucléotidique.
English descriptors
- KwdEn :
- Base Sequence, Child, Congenital Abnormalities (genetics), Congenital Abnormalities (pathology), DNA-Binding Proteins (genetics), Eyelashes (abnormalities), Eyelashes (pathology), Female, Forkhead Transcription Factors, Humans, Lymphedema (complications), Lymphedema (genetics), Male, Middle Aged, Mutation (genetics), Pedigree, Syndrome, Transcription Factors (genetics).
- MESH :
- chemical , genetics : DNA-Binding Proteins, Transcription Factors.
- abnormalities : Eyelashes.
- complications : Lymphedema.
- genetics : Congenital Abnormalities, Lymphedema, Mutation.
- pathology : Congenital Abnormalities, Eyelashes.
- Base Sequence, Child, Female, Forkhead Transcription Factors, Humans, Male, Middle Aged, Pedigree, Syndrome.
Abstract
To describe the clinical characteristics of a family with autosomal dominant lymphedema-distichiasis syndrome and to report the results of analysis of the FOXC2 gene
PubMed: 12383817
Affiliations:
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pubmed:12383817Le document en format XML
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Kimak</name></author><author><name sortKey="Crowe, Susan" sort="Crowe, Susan" uniqKey="Crowe S" first="Susan" last="Crowe">Susan Crowe</name></author><author><name sortKey="Wilson, Steven E" sort="Wilson, Steven E" uniqKey="Wilson S" first="Steven E" last="Wilson">Steven E. Wilson</name></author><author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N" last="Finegold">David N. Finegold</name></author><author><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E" last="Ferrell">Robert E. Ferrell</name></author><author><name sortKey="Meisler, David M" sort="Meisler, David M" uniqKey="Meisler D" first="David M" last="Meisler">David M. 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Ferrell</name><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N" last="Finegold">David N. Finegold</name><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A" last="Kimak">Mark A. Kimak</name><name sortKey="Matsumoto, Masayuki" sort="Matsumoto, Masayuki" uniqKey="Matsumoto M" first="Masayuki" last="Matsumoto">Masayuki Matsumoto</name><name sortKey="Meisler, David M" sort="Meisler, David M" uniqKey="Meisler D" first="David M" last="Meisler">David M. Meisler</name><name sortKey="Wilson, Steven E" sort="Wilson, Steven E" uniqKey="Wilson S" first="Steven E" last="Wilson">Steven E. Wilson</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Traboulsi, Elias I" sort="Traboulsi, Elias I" uniqKey="Traboulsi E" first="Elias I" last="Traboulsi">Elias I. Traboulsi</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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