LymphedemaV1, Main, Exploration, bibRecord, 00AD76

Microcephaly‐lymphedema‐chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance

Identifieur interne : 00AD76 ( Main/Exploration ); précédent : 00AD75; suivant : 00AD77

Microcephaly‐lymphedema‐chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance

Auteurs : Chanin Limwongse [États-Unis] ; Richard E. Wyszynski [États-Unis] ; Lois H. Dickerman [États-Unis] ; Nathaniel H. Robin [États-Unis]

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1999-09-17.

RBID : ISTEX:973E3C1F6709049C0CA1A43D4F2BE275FF45D082

Descripteurs français

KwdFr :
- Adolescent, Choroïde (malformations), Communications interauriculaires (génétique), Dysplasie rétinienne (génétique), Faciès, Femelle, Humains, Lymphoedème (génétique), Microcéphalie (génétique), Mâle, Pedigree, Syndrome.
MESH :
- génétique : Communications interauriculaires, Dysplasie rétinienne, Lymphoedème, Microcéphalie.
- malformations : Choroïde.
Pascal (Inist)
- Adolescent, Caractère autosomique, Caractère dominant, Choriorétinopathie, Déterminisme génétique, Etude familiale, Expression génique, Faciès, Femelle, Homme, Humains, Lymphoedème, Microcéphalie, Mâle, Pathogénie, Pedigree, Phénotype, Syndrome.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Adolescent, Autosomal character, Chorioretinopathy, Choroid (abnormalities), Dominant character, Facies, Family study, Female, Gene expression, Genetic determinism, Heart Septal Defects, Atrial (genetics), Human, Humans, Lymphedema, Lymphedema (genetics), Male, Microcephaly, Microcephaly (genetics), Pathogenesis, Pedigree, Phenotype, Retinal Dysplasia (genetics), Syndrome.
MESH :
- abnormalities : Choroid.
- genetics : Heart Septal Defects, Atrial, Lymphedema, Microcephaly, Retinal Dysplasia.
- Adolescent, Facies, Female, Humans, Male, Pedigree, Syndrome.

Abstract

We report on a follow‐up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema. Am. J. Med. Genet. 86:215–218, 1999. © 1999 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/973E3C1F6709049C0CA1A43D4F2BE275FF45D082/fulltext/pdf

DOI: 10.1002/(SICI)1096-8628(19990917)86:3<215::AID-AJMG4>3.0.CO;2-E

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">We report on a follow‐up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema. Am. J. Med. Genet. 86:215–218, 1999. © 1999 Wiley‐Liss, Inc.</div>
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Microcephaly‐lymphedema‐chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance

Microcephaly‐lymphedema‐chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

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