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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
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Bioline Code: hg07017
Full paper language: English
Document type: Research Article
Document available free of charge
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Indian Journal of Human Genetics, Vol. 13, No. 2, 2007, pp. 73-75
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Case Report - Camptodactyly in Sotos syndrome
Danda, S; Mathew, MC; Bain, SM & Palnok, S
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.
Keywords
Camptodactyly, Sotos syndrome, Weaver syndrome
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© Copyright 2007 Indian Journal of Human Genetics.
Alternative site location: http://www.ijhg.com/
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