Author response for '16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome'

Authors :: Katja Kloth
Doris Steinemann
Verena Kolbe
Gunter Burmester
Brigitte Pabst
Ronald Simon
Georg Rosenberger
Sina Renner
Maja Hempel
Birgit Lorenz
Publication Year :: 2019
Publisher :: Wiley, 2019.

Subjects :: medicine.medical_specialty
business.industry
Internal medicine
medicine
MYH11
Missense mutation
Megacystis
Microcolon
medicine.disease
business
Gastroenterology
Intestinal hypoperistalsis
Loss function

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