Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Halim, D; Brosens, E; Muller, F; Wangler, MF; Beaudet, AL; Lupski, JR; Akdemir, ZHC; Doukas, M; Stoop, HJ; de Graaf, BM; Brouwer, RWW; van Ijcken, WFJ; Oury, JF; Rosenblatt, J; Burns, AJ; Tibboel, D; Hofstra, RMW; Alves, MM

Hofstra, RMW; Alves, MM (reprint author), Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands.; Hofstra, RMW (reprint author), UCL, UCL Great Ormond St Inst Child Hlth, Birth Defects Res Ctr, Stem Cells & Regenerat Med, London WC1N 1

AMERICAN JOURNAL OF HUMAN GENETICS, 2017; 101 (1): 123

Abstract

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the b......

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