Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
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Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsHuman genetic disorders and knockout mice deficient in glycosaminoglycanPathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.Modifications of glycans: biological significance and therapeutic opportunitiesA new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossChondroitin / dermatan sulfate modification enzymes in zebrafish development.Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.Cystic Fibrosis in a Female Infant with Cardiac, Ocular, and Musculoskeletal Anomalies.Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012Brittle cornea syndrome: recognition, molecular diagnosis and managementThe Ehlers-Danlos syndrome, a disorder with many faces.Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycansGenetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.The Ehlers-Danlos syndromes, rare types.Defective CHST14 causes EDS, musculocontractural typeInsight into the molecular genetics of myopia.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient adducted thumb-clubfoot syndrome”Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene
P2860
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P2860
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Musculocontractural Ehlers-Dan ...... ferase 1 encoding CHST14 gene.
@ast
Musculocontractural Ehlers-Dan ...... ferase 1 encoding CHST14 gene.
@en
Musculocontractural Ehlers-Danlos Syndrome
@nl
type
label
Musculocontractural Ehlers-Dan ...... ferase 1 encoding CHST14 gene.
@ast
Musculocontractural Ehlers-Dan ...... ferase 1 encoding CHST14 gene.
@en
Musculocontractural Ehlers-Danlos Syndrome
@nl
prefLabel
Musculocontractural Ehlers-Dan ...... ferase 1 encoding CHST14 gene.
@ast
Musculocontractural Ehlers-Dan ...... ferase 1 encoding CHST14 gene.
@en
Musculocontractural Ehlers-Danlos Syndrome
@nl
P2093
P50
P356
P1433
P1476
Musculocontractural Ehlers-Dan ...... ferase 1 encoding CHST14 gene.
@en
P2093
Delfien Syx
Lut Van Laer
Sheela Nampoothiri
Sofie Symoens
Trinh Hermanns-Lê
P304
P356
10.1002/HUMU.21355
P577
2010-11-01T00:00:00Z