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

Danny Halim, Erwin Brosens, F Muller, MF Wangler, AL Beaudet, JR Lupski, ZHC Akdemir, Michail Doukas, Hans Stoop, Bianca de Graaf, Rutger Brouwer, Wilfred van Ijcken, JF Oury, J Rosenblatt, Alan Burns, Dick Tibboel, Robert Hofstra, Maria Alves

Research output: Contribution to journalArticleAcademicpeer-review

30 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)123-129
Number of pages7
JournalAmerican Journal of Human Genetics
Volume101
Issue number1
DOIs
Publication statusPublished - 2017

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