Ontology highlight
ABSTRACT:
SUBMITTER: Alagia M
PROVIDER: S-EPMC5814867 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Alagia Marianna M Cappuccio Gerarda G Pinelli Michele M Torella Annalaura A Brunetti-Pierri Raffaella R Simonelli Francesca F Limongelli Giuseppe G Oppido Guido G Nigro Vincenzo V Brunetti-Pierri Nicola N
American journal of medical genetics. Part A 20171212 2
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the fir ...[more]