Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
about
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.Abdominal radiograph with intravesical air and possible small bowel atresiaA homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.Classification and diagnostic criteria of variants of Hirschsprung's disease.Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Rarity.Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstructionMegacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: An Unusual In Utero Presentation.Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome.ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
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P2860
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
@en
type
label
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
@en
prefLabel
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
@en
P2860
P1476
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
@en
P2093
Danielle Mc Laughlin
P2860
P2888
P304
P356
10.1007/S00383-013-3357-X
P577
2013-09-01T00:00:00Z
P6179
1003608391