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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 13, No. 2, 2007, pp. 73-75
Bioline Code: hg07017
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 13, No. 2, 2007, pp. 73-75

 en Case Report - Camptodactyly in Sotos syndrome
Danda, S; Mathew, MC; Bain, SM & Palnok, S


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.

Camptodactyly, Sotos syndrome, Weaver syndrome

© Copyright 2007 Indian Journal of Human Genetics.
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