Camptodactyly in Sotos syndrome.
Indian J Hum Genet
;
2007 May; 13(2): 73-75
Artigo
em Inglês
| 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.
Texto completo:
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Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2007
Tipo de documento:
Artigo
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