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Article

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

American journal of human genetics - 1 Dec 2009

Dündar Munis, Müller Thomas, Zhang Qi, Pan Jing, Steinmann Beat, Vodopiutz Julia, Gruber Robert, Sonoda Tohru, Krabichler Birgit, Utermann Gerd, Baenziger Jacques U, Zhang Lijuan, Janecke Andreas R

Abstract excerpt

Adducted thumb-clubfoot syndrome is an autosomal-recessive disorder characterized by typical facial appearance, wasted build, thin and translucent skin, congenital contractures of thumbs and feet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects. We elucidated the molecular basis of the disease by using a SNP array-based genome-wide linkage approach that...

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Source

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Identifiers

PMID: 20004762
DOI: 10.1016/j.ajhg.2009.11.010
PMCID: PMC2790573

Genes

CHST14

Provenance

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Related research

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Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.PMID 20004762Read ↗

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.Semantic proximity Read ↗

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.Semantic proximity Read ↗

Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.Semantic proximity Read ↗

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.Semantic proximity Read ↗

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.Semantic proximity Read ↗

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Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.Semantic proximity Read ↗

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