Ontology highlight
ABSTRACT:
SUBMITTER: Vieira GH
PROVIDER: S-EPMC3260931 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Vieira Gustavo H GH Rodriguez Jayson D JD Carmona-Mora Paulina P Cao Lei L Gamba Bruno F BF Carvalho Daniel R DR de Rezende Duarte Andréa A Santos Suely R SR de Souza Deise H DH DuPont Barbara R BR Walz Katherina K Moretti-Ferreira Danilo D Srivastava Anand K AK
European journal of human genetics : EJHG 20110907 2
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 ...[more]