A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

(2014) Merel Klaassens et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Simpson-Golabi-Behmel syndrome types I and II

(2014) Jair Tenorio et al.   Orphanet Journal of Rare Diseases

Sotos Syndrome Is Associated with Deregulation of the MAPK/ERK-Signaling Pathway

(2012) Remco Visser et al.   PLoS One

Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome

(2011) Deirdre E. Donnelly et al.   CLINICAL DYSMORPHOLOGY

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema

(2009) Ulrich Zechner et al.   European Journal of Medical Genetics

Multiple Giant Pilomatricoma in Familial Sotos Syndrome

(2008) YOLANDA GILABERTE et al.   PEDIATRIC DERMATOLOGY