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PLoS Genetics, ISSN 1553-7390, 2014, Volume 10, Issue 3, p. e1004258
Journal Article
Radiology Case Reports, ISSN 1930-0433, 2007, Volume 2, Issue 4, p. 26
We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a newborn female infant who presented with an abdominal mass, absent... 
Journal Article
Journal Article
Journal of Pediatric Surgery, ISSN 0022-3468, 07/2019, Volume 54, Issue 7, pp. 1303 - 1307
Megacystis–microcolon–hypoperistalsis syndrome (MMIHS) also called Berdon's Syndrome, is a smooth muscle myopathy that results in an enlarged bladder,... 
Esophageal dysmotility | Megacystis–microcolon–intestinal-hypoperistalsis syndrome | Intestinal transplantation | Intestinal hypoperistalsis | Berdon syndrome | Intestinal pseudoobstruction | SURGERY | Megacystis-microcolon-intestinal-hypoperistalsis syndrome | PEDIATRICS
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2016, Volume 25, Issue 3, pp. 571 - 583
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants in the Enteric Smooth... 
SMOOTH-MUSCLE | MOLECULAR-DYNAMICS | CONTRACTILE | INVOLVEMENT | SEQUENCE | NICOTINIC ACETYLCHOLINE-RECEPTOR | FAMILIAL VISCERAL MYOPATHY | MUTATIONS | PSEUDOOBSTRUCTION | ASSOCIATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Muscle Contraction - genetics | Humans | Protein Multimerization | Actins - metabolism | Male | Intestines - metabolism | Mutation, Missense | Urinary Bladder - pathology | Colon - abnormalities | Actins - genetics | Young Adult | Intestinal Pseudo-Obstruction - metabolism | Fatal Outcome | Actins - chemistry | Female | Abnormalities, Multiple - genetics | Infant, Newborn | Gene Expression | Intestines - pathology | Urinary Bladder - metabolism | Colon - pathology | Intestinal Pseudo-Obstruction - pathology | Muscle, Smooth - metabolism | Colon - metabolism | Intestinal Pseudo-Obstruction - genetics | Molecular Dynamics Simulation | Urinary Bladder - abnormalities | Pedigree | Heterozygote | Muscle, Smooth - pathology | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical Biotechnology | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Medicinsk bioteknologi | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)
Journal Article
Pediatric Surgery International, ISSN 0179-0358, 02/2019, Volume 35, Issue 2, pp. 175 - 180
Background/purposeMegacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital and generally fatal cause of functional intestinal... 
Berdon syndrome | Megacystis microcolon intestinal hypoperistalsis syndrome | SURVIVAL | SURGERY | MULTIVISCERAL TRANSPLANTATION | VARIANTS | APPEARANCE | AUTONOMIC INNERVATION | CONTRACTILE | PEDIATRICS | NUTRITION | ASSOCIATION | MYDRIASIS | PRENATAL-DIAGNOSIS | Causes of | Intestines | Obstructions | Care and treatment | Diagnosis | Research
Journal Article
Human Genetics, ISSN 0340-6717, 6/2014, Volume 133, Issue 6, pp. 737 - 742
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1266 - 1268
Journal Article
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 12/2016, Volume 63, Issue 6, pp. 624 - 626
Journal Article