Ontology highlight
ABSTRACT:
SUBMITTER: Rio M
PROVIDER: S-EPMC1735492 | biostudies-other | 2003 Jun
REPOSITORIES: biostudies-other
Rio M M Clech L L Amiel J J Faivre L L Lyonnet S S Le Merrer M M Odent S S Lacombe D D Edery P P Brauner R R Raoul O O Gosset P P Prieur M M Vekemans M M Munnich A A Colleaux L L Cormier-Daire V V
Journal of medical genetics 20030601 6
Sotos syndrome is an overgrowth syndrome characterised by pre- and postnatal overgrowth, macrocephaly, advanced bone age, and typical facial features. Weaver syndrome is a closely related condition characterised by a distinctive craniofacial appearance, advanced carpal maturation, widened distal long bones, and camptodactyly. Haploinsufficiency of the NSD1 gene has recently been reported as the major cause of Sotos syndrome while point mutations accounted for a minority of cases. We looked for N ...[more]