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

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Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.A Rare Case of Adult-Onset Rectosigmoid Hypoganglionosis.

P2860

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P2860

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

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

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2017年論文

@zh-tw

2017年论文

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2017年论文

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2017年论文

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Diagnosis of Chronic Intestina ...... by Sequencing the ACTG2 Gene.

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Diagnosis of Chronic Intestina ...... by Sequencing the ACTG2 Gene.

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Diagnosis of Chronic Intestina ...... by Sequencing the ACTG2 Gene.

@en

P1476

Diagnosis of Chronic Intestina ...... by Sequencing the ACTG2 Gene.

@en

P2093

Adrian Curnow

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Aubrey Milunsky

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Clinton Baldwin

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Daniel Primack

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Jeff Milunsky

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Xiaoying Zhang

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P2860

Chronic intestinal pseudo-obstruction

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.

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

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.

Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls.

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

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

Non-transplantation surgical approach for chronic intestinal pseudo-obstruction: analysis of 63 adult consecutive cases.

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scholarly article

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10.1097/MPG.0000000000001608

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English

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2017-04-18T00:00:00Z

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28422808

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5610062

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

about

P2860

P2860

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

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type

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P1433

P1476

P2093

P2860

P31

P356

P407

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P31

P356

P407

P577

P698

P932