Literature DB >> 7856649

Pitfalls of genetic counselling in brachydactyly type C.

G Camera1, A Camera, M Costa, R Mantero.   

Abstract

A familial case of brachydactyly type C is presented in which hand radiographs of the proposita's parents was considered normal. The metacarpophalangeal profile pattern of the mother's hands demonstrated minimal manifestations typical of brachydactyly type C.

Entities:  

Mesh：

Year:  1994        PMID： 7856649     DOI： 10.1002/ajmg.1320530216

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


  2 in total

1.  Isolated symmetrical brachymetacarpia of the thumb--case report.

Authors:  S S Suresh; Raju Abraham; Pullanikattil Ravi
Journal:  Hand (N Y)       Date:  2009-03-25

2.  Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Authors:  Katja Stange; Claus-Eric Ott; Mareen Schmidt-von Kegler; Gabriele Gillesen-Kaesbach; Stefan Mundlos; Katarina Dathe; Petra Seemann
Journal:  J Hum Genet       Date:  2015-05-21       Impact factor: 3.172
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.