Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

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Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

P2860

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Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

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http://www.wikidata.org/entity/Q48097842

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2014 nî lūn-bûn

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2014年の論文

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name

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

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Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

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Item

label

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

@en

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

@nl

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Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

@en

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

@nl

P1476

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

@en

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Anne M M Oonk

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Hannie Kremer

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Henricus P M Kunst

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Jurgen J Schelhaas

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Merel S Ekker

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Patrick L M Huygen

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Ronald J E Pennings

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P2860

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

Diagnosing arthrogryposis multiplex congenita: a review

Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor

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

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

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

The puzzle of TRPV4 channelopathies.

A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis

Nonsyndromic hearing loss.

Recent advances in the understanding of syndromic forms of hearing loss.

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859-865

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scholarly article

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10.1177/0003489414539130

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123

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2014-06-24T00:00:00Z

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24963089

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P921

spinal muscular atrophy

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

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P2860

P2860

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

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P1476

P2093

P2860

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P921