Literature DB >> 11102923

Char syndrome: an additional family with polythelia, a new finding.

R Zannolli1, R Mostardini, M Matera, L Pucci, B D Gelb, G Morgese.   

Abstract

This report describes a father and daughter with Char syndrome, a rare autosomal dominant disorder. Both affected individuals had typical face, strabismus, and foot anomalies. The girl also had a patent ductus arteriosus. In addition, both patients had polythelia (supernumerary nipples), a finding not described before in the Char syndrome. Copyright 2000 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2000        PMID: 11102923     DOI: 10.1002/1096-8628(20001127)95:3<201::aid-ajmg3>3.0.co;2-w

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


  1 in total

1.  Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Authors:  Arya Mani; Jayaram Radhakrishnan; Anita Farhi; Khary S Carew; Carole A Warnes; Carol Nelson-Williams; Ronald W Day; Barbara Pober; Matthew W State; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2005-01-31       Impact factor: 11.205

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.