R705H mutation ofMYH9is associated withMYH9-related disease and not only with non-syndromic deafness DFNA17-Reference-Cited by-同舟云学术

R705H mutation ofMYH9is associated withMYH9-related disease and not only with non-syndromic deafness DFNA17

Published:2014-07-26 Issue:1 Volume:88 Page:85-89
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Verver E.¹,Pecci A.²,De Rocco D.³,Ryhänen S.⁴,Barozzi S.²,Kunst H.⁵,Topsakal V.¹,Savoia A.³⁶

Affiliation:

1. Department of Otorhinolaryngology and Head & Neck Surgery, Rudolf Magnus Institute of Neuroscience; University Medical Center Utrecht; Utrecht the Netherlands

2. Department of Internal Medicine; IRCCS Policlinico San Matteo Foundation and University of Pavia; Pavia Italy

3. Department of Medical Sciences; University of Trieste; Trieste Italy

4. Clinic for Hematology, Oncology and Stem Cell Transplantation; Hospital for Children and Adolescent Helsinki University Central Hospital; Helsinki Finland

5. Radboud university medical center; Donders Institute for Brain, Cognition and Behavior; Nijmegen the Netherlands

6. Institute for Maternal and Child Health; IRCCS Burlo Garofolo; Trieste Italy

Funder

Fondazione Telethon

IRCCS Burlo Garofolo

IRCCS Policlinico San Matteo Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium;Seri;Nat Genet,2000