Camptodactyly in Sotos syndrome.
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ABSTRACT:
SUBMITTER: Danda S
PROVIDER: S-EPMC3168163 | biostudies-literature | 2007 May
REPOSITORIES: biostudies-literature
Publications
Camptodactyly in Sotos syndrome.
Danda S S Mathew M C MC Bain S M SM Palnok S S
Indian journal of human genetics 20070501 2
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. ...[more]
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