A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.

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WISP3 mutation associated with Pseudorheumatoid Dysplasia.

P2860

Q47577199-280492DD-57FA-4967-85CA-B3D1E3B21D31

P2860

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.

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http://www.wikidata.org/entity/Q38895256

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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A homozygous deletion of exon ...... oid dysplasia in two siblings.

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Item

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A homozygous deletion of exon ...... oid dysplasia in two siblings.

@en

prefLabel

A homozygous deletion of exon ...... oid dysplasia in two siblings.

@en

P1476

A homozygous deletion of exon ...... oid dysplasia in two siblings.

@en

P2093

Barbara Neerinckx

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

Carine Wouters

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

Cedric Thues

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

Hilde Van Esch

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

Rene Westhovens

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

Sarah Lechner

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P2860

WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice

Progressive pseudorheumatoid dysplasia: report of a family and review.

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

WISP3-dependent regulation of type II collagen and aggrecan production in chondrocytes.

Molecular study ofWISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

P2888

hgv.2015.49

P304

15049

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P31

scholarly article

P356

10.1038/HGV.2015.49

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P478

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

P50

Hilde Van Esch

P577

2015-12-03T00:00:00Z

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P5875

285657940

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P6179

1031198239

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P698

27081554

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P921

sibling

P932

4785582

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

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.

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P2860

P2860

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P921

P932