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
about
Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasiaA Wisp3 Cre-knockin allele produces efficient recombination in spermatocytes during early prophase of meiosis I.The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signalingNovel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu typeWISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.Muscle Weakness: A Misleading Presentation in Children With Distinctive Syndromic Entities (Clinical Case Reports).WISP3 mutation associated with Pseudorheumatoid Dysplasia.Late diagnosis of a truncating WISP3 mutation results in a severe phenotype of progressive pseudorheumatoid dysplasia.Novel and recurrent mutations in WISP3 and an atypical phenotype.Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.Ilizarov technique in an adolescent patient with progressive pseudorheumatoid dysplasia: A case report
P2860
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P2860
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
description
im Januar 2005 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована у 2005
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name
Molecular study ofWISP3 in nin ...... escription of a founder effect
@en
Molecular study ofWISP3 in nin ...... escription of a founder effect
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type
label
Molecular study ofWISP3 in nin ...... escription of a founder effect
@en
Molecular study ofWISP3 in nin ...... escription of a founder effect
@nl
prefLabel
Molecular study ofWISP3 in nin ...... escription of a founder effect
@en
Molecular study ofWISP3 in nin ...... escription of a founder effect
@nl
P2093
P356
P1476
Molecular study ofWISP3 in nin ...... escription of a founder effect
@en
P2093
André Mégarbané
Eliane Chouery
Ismat Ghanem
J. Andoni Urtizberea
Judith Fischer
Sandra Corbani
Suhail Aamar
P304
P356
10.1002/AJMG.A.30906
P407
P577
2005-01-01T00:00:00Z