Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

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http://www.wikidata.org/entity/Q33403224
The Norrin/Frizzled4 signaling pathway in retinal vascular development and diseaseWnt signaling pathway in retinal vascularizationFrom the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafishFamilial exudative vitreoretinopathy and related retinopathies.Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreousFamilial exudative vitreoretinopathy presentation as persistent fetal vasculature.Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments.
P2860

Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

Item
http://www.wikidata.org/entity/Q33403224
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2009 nî lūn-bûn
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2009 թուականի Մարտին հրատարակուած գիտական յօդուած
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2009 թվականի մարտին հրատարակված գիտական հոդված
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年學術文章
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Phenotypic overlap of familial ...... ons in two distinct pedigrees.
@ast
Phenotypic overlap of familial ...... ons in two distinct pedigrees.
@en
type
label
Phenotypic overlap of familial ...... ons in two distinct pedigrees.
@ast
Phenotypic overlap of familial ...... ons in two distinct pedigrees.
@en
prefLabel
Phenotypic overlap of familial ...... ons in two distinct pedigrees.
@ast
Phenotypic overlap of familial ...... ons in two distinct pedigrees.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Phenotypic overlap of familial ...... ons in two distinct pedigrees.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698