Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.

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Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.

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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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2017年学术文章

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2017年學術文章

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Prenatal diagnosis of chronic ...... the ACTG2 pathogenic variant.

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Prenatal diagnosis of chronic ...... the ACTG2 pathogenic variant.

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Item

label

Prenatal diagnosis of chronic ...... the ACTG2 pathogenic variant.

@en

Prenatal diagnosis of chronic ...... the ACTG2 pathogenic variant.

@nl

prefLabel

Prenatal diagnosis of chronic ...... the ACTG2 pathogenic variant.

@en

Prenatal diagnosis of chronic ...... the ACTG2 pathogenic variant.

@nl

P1476

Prenatal diagnosis of chronic ...... r the ACTG2 pathogenic variant

@en

P2093

Carmen Young

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Clinton Baldwin

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Daniel Primack

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Jeff M Milunsky

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P2860

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.

Long-term outcome of chronic intestinal pseudo-obstruction adult patients requiring home parenteral nutrition.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.

Diagnosis of Chronic Intestinal Pseudo-obstruction & Megacystis by Sequencing the ACTG2 Gene.

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Isolated intestinal transplant for chronic intestinal pseudo-obstruction in adults: long-term outcome.

P304

1254-1256

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P31

scholarly article

P356

10.1002/PD.5171

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P433

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P478

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P50

Aubrey Milunsky

Joanna Lazier

P577

2017-11-28T00:00:00Z

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P698

29072330

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