Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

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Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

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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

@zh-mo

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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name

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

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label

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

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prefLabel

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

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P1476

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

@en

P2093

Berge A Minassian

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Muhammad Jawad Hassan

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Rubina Dad

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Suk Yun Kang

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Susan Walker

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P2860

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2.

The Role of Additional Sex Combs-Like Proteins in Cancer.

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

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e189

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P31

scholarly article

P356

10.1212/NXG.0000000000000189

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Stephen W. Scherer

P577

2017-09-22T00:00:00Z

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P698

28955728

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P932

5610043

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