Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East - Wikidata - awgldk - TriplyDB

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

http://www.wikidata.org/entity/Q24644863

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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families A developmental and genetic classification for malformations of cortical development: update 2012 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.Genetic, chromosomal, and syndromic causes of neural tube defects.Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.A developmental and genetic classification for midbrain-hindbrain malformations.Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Neuromuscular disorders in zebrafish: state of the art and future perspectives.The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology.Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.Dystroglycan Maintains Inner Limiting Membrane Integrity to Coordinate Retinal Development.Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.A newly recognized autosomal recessive syndrome affecting neurologic function and vision

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P2860

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

http://www.wikidata.org/entity/Q24644863

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2008 nî lūn-bûn

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2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2008 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2008年の論文

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Annapurna Poduri

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Bernard S Chang

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Brenda J Barry

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Christopher A Walsh

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Danielle Gleason

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Jennifer N Partlow

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Jessica G Davis

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Karen Schmidt

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Lawrence R Shapiro

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M Chiara Manzini

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P2860

Walker-Warburg syndrome

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome

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scholarly article

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10.1002/HUMU.20844

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11

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29

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William B. Dobyns

Mustafa A. Salih

Lina Basel-Vanagaite

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2008-11-01T00:00:00Z

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23218902

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18752264

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