16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome
Kloth, Katja, Renner, Sina, Burmester, Gunter, Steinemann, Doris, Pabst, Brigitte, Lorenz, Birgit, Simon, Ronald, Kolbe, Verena, Hempel, Maja, Rosenberger, GeorgLanguage:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.13557
Date:
May, 2019
File:
PDF, 1.42 MB
english, 2019