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Article

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

Nature genetics - 1 Jul 1996

Toriello H V, Glover T W, Takahara K, Byers P H, Miller D E, Higgins J V, Greenspan D S

Abstract excerpt

Ehlers-Danlos syndrome (EDS) is a genetically and pathogenetically heterogeneous group of disorders of which at least 11 types have been described. All are connective tissue disorders characterized by defects of the skin, ligaments and blood vessels with the clinical spectrum ranging from innocuous findings to lethality. Mutations in the genes encoding the major fibrillar collagen types I and III have been...

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PMID: 8673139
DOI: 10.1038/ng0796-361

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.PMID 8673139Read ↗

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The Ehlers-Danlos syndrome.Semantic proximity Read ↗

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).Semantic proximity Read ↗

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.Semantic proximity Read ↗

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.Semantic proximity Read ↗

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.Semantic proximity Read ↗

Homozygous Gly530Ser substitution in <i>COL5A1</i> causes mild classical Ehlers‐Danlos syndromeSemantic proximity Read ↗

Clinical Variability of Classical Ehlers-Danlos Syndrome: A Family with Rare COL5A1 Variant and Case-Based Review.Semantic proximity Read ↗

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.Semantic proximity Read ↗

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.Semantic proximity Read ↗

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