Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
about
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.
P2860
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
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name
Loss-of-Function Variants in M ...... inal Hypoperistalsis Syndrome.
@en
Loss-of-Function Variants in M ...... inal Hypoperistalsis Syndrome.
@nl
type
label
Loss-of-Function Variants in M ...... inal Hypoperistalsis Syndrome.
@en
Loss-of-Function Variants in M ...... inal Hypoperistalsis Syndrome.
@nl
prefLabel
Loss-of-Function Variants in M ...... inal Hypoperistalsis Syndrome.
@en
Loss-of-Function Variants in M ...... inal Hypoperistalsis Syndrome.
@nl
P2093
P2860
P50
P1476
Loss-of-Function Variants in M ...... inal Hypoperistalsis Syndrome.
@en
P2093
Alan J Burns
Arthur L Beaudet
Bianca M de Graaf
Danny Halim
Françoise Muller
Hans J Stoop
James R Lupski
Jean-François Oury
Jonathan Rosenblatt
Maria M Alves
P2860
P304
P356
10.1016/J.AJHG.2017.05.011
P407
P577
2017-06-07T00:00:00Z