Ontology highlight
ABSTRACT:
SUBMITTER: Halim D
PROVIDER: S-EPMC5501771 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Halim Danny D Brosens Erwin E Muller Françoise F Wangler Michael F MF Beaudet Arthur L AL Lupski James R JR Akdemir Zeynep H Coban ZHC Doukas Michael M Stoop Hans J HJ de Graaf Bianca M BM Brouwer Rutger W W RWW van Ijcken Wilfred F J WFJ Oury Jean-François JF Rosenblatt Jonathan J Burns Alan J AJ Tibboel Dick D Hofstra Robert M W RMW Alves Maria M MM
American journal of human genetics 20170608 1
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. To date, three genes are known to be involved in MMIHS pathogenesis: ACTG2, MYH11, and LMOD1. However, for approximately 10% of affected individuals, the genetic cause of the disease is unknown, suggesting that other loci are most likely involved. Here, we report on three MMIHS-affected subjects from two consanguineous familie ...[more]