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Camptodactyly in Sotos syndrome.
Indian J Hum Genet ; 2007 May; 13(2): 73-75
Article in English | 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.

Full text: Available Index: IMSEAR (South-East Asia) Language: English Journal: Indian J Hum Genet Year: 2007 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Language: English Journal: Indian J Hum Genet Year: 2007 Type: Article