New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

Lea Tuzovic,Sha Tang,Russell Miller,Luis Rohena,Layla Shahmirzadi,Kelly Gonzalez,Xiang Li,Charles Leduc,Jiancheng Guo,Ashley Wilson,Ashley Mills,Kenneth Glassberg,Heidi Rotterdam,Antonia R. Sepulveda,Wenqi Zeng,Wendy K. Chung,Kwame Anyane-Yeboa

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

2015

Lea Tuzovic
Sha Tang
Russell Miller
Luis Rohena
Layla Shahmirzadi
Kelly Gonzalez
Xiang Li
Charles Leduc
Jiancheng Guo
Ashley Wilson
Ashley Mills
Kenneth Glassberg
Heidi Rotterdam
Antonia R. Sepulveda
Wenqi Zeng
Wendy K. Chung
Kwame Anyane-Yeboa

Objective: To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 i

Keywords:

Fetal megacystis
Megacystis
Germline mosaicism
Berdon syndrome
Intestinal hypoperistalsis
Prenatal diagnosis
Actin
Genetics
Medicine
Microcolon
Fetus
Missense mutation

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