Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Titel:
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Auteur:
Halim, Danny Brosens, Erwin Muller, Françoise Wangler, Michael F. Beaudet, Arthur L. Lupski, James R. Akdemir, Zeynep H. Coban Doukas, Michael Stoop, Hans J. de Graaf, Bianca M. Brouwer, Rutger W.W. van Ijcken, Wilfred F.J. Oury, Jean-François Rosenblatt, Jonathan Burns, Alan J. Tibboel, Dick Hofstra, Robert M.W. Alves, Maria M.