Camptodactyly in Sotos syndrome.
Indian J Hum Genet
;
2007 May; 13(2): 73-75
Article
Dans Anglais
| IMSEAR
| ID: sea-138830
ABSTRACT
We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
langue:
Anglais
Texte intégral:
Indian J Hum Genet
Année:
2007
Type:
Article
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