Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N, NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet72(1):132-43 2003
PubMed ID: 12464997

Records Return:  (2) Show
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM19977Male7 YR2499probandSOTOS SYNDROME
GM19978Male16 YR2435probandSOTOS SYNDROME