Loss of function mutations in Carboxypeptidase D cause a new syndrome with recognizable dysmorphisms, lymphedema and sensorineural hearing loss.


ALTUNOĞLU U.

17TH MANCHESTER DYSMORPHOLOGY CONFERENCE, Manchester, United Kingdom, 7 - 11 November 2016, pp.1, (Summary Text)

  • Publication Type: Conference Paper / Summary Text
  • City: Manchester
  • Country: United Kingdom
  • Page Numbers: pp.1
  • Istanbul University Affiliated: Yes