Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

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Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.

P2860

Q41066145-3AB2E08F-C4D7-4233-96D2-72B2A7D3F187

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Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

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http://www.wikidata.org/entity/Q52854120

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

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Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

@nl

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Item

label

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

@en

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

@nl

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Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

@en

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

@nl

P1476

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

@en

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Daniel H Cohn

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

Deborah A Nickerson

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

Deborah Krakow

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

Michael Bamshad

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

Michael M Weinstein

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Ralph S Lachman

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

Taekyu Kang

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P2860

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

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3298-3302

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scholarly article

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10.1002/AJMG.A.37942

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English

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170

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2016-08-17T00:00:00Z

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27530454

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P932

5115972

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Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

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P2860

P2860

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P932