1.
Indian J Hum Genet
; 13(2): 73-5, 2007 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21957350
RESUMO
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.