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Article

Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.

Genetics and molecular research : GMR - 13 Aug 2012

Huang C, Yang Y-F, Zhang H, Xie L, Chen J-L, Wang J, Tan Z-P, Luo H

Abstract excerpt

Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion or mutation of RAI1). We describe an eight-year-old female Chinese patient with multiple malformations, congenital heart defect, mental retardation, and behavioral...

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Source

Identifiers

PMID: 22911601
DOI: 10.4238/2012.August.13.5

Genes

SMS
RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.PMID 22911601Read ↗

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