1.
Indian J Hum Genet
; 2007 May; 13(2): 73-75
Article
de Anglais
| IMSEAR
| ID: sea-138830
RÉSUMÉ
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.