Literature DB >> 8669442

Cerebrofaciothoracic syndrome.

M L Guion-Almeida1, A Richieri-Costa, D Saavedra, M M Cohen.   

Abstract

We report on a patient with a large septum pellucidum, hypodensity of gray matter, hypertelorism, and costovertebral anomalies. Only 5 previous cases have been described with this distinctive phenotype. Autosomal recessive inheritance seems likely.

Entities:  

Mesh:

Year:  1996        PMID: 8669442     DOI: 10.1002/(SICI)1096-8628(19960111)61:2<152::AID-AJMG9>3.0.CO;2-Z

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Authors:  Davut Pehlivan; Ender Karaca; Hatip Aydin; Christine R Beck; Tomasz Gambin; Donna M Muzny; B Bilge Geckinli; Ali Karaman; Shalini N Jhangiani; Richard A Gibbs; James R Lupski
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.