A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
作者: W. SmailiS. Chafai ElalaouiS. MeierM. ZerkaouiA. SefianiK. Heinimann
作者单位: 1Université Mohamed V
2Institut National d’Hygiène
3Medical Genetics, University Hospital Basel
刊名: BMC Medical Genetics, 2017, Vol.18 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-017-0413-8
关键词: Tricho-rhino-phalangeal syndrome type IIITRPS1Exon 6Novel missense mutationMoroccan family
原始语种摘要: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation.
全文获取路径: Springer Nature  (合作)
影响因子:2.536 (2012)

  • phalangeal 指骨的
  • case report 个案报告
  • rhino 
  • family 
  • epiphyses 上骨端骨
  • brachydactyly 指过短
  • stature 身长
  • pronounced 明确的
  • disorder 无序
  • syndrome 症候群