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Article

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

American journal of medical genetics. Part A - 1 Sept 2017

Horn Denise, Siebert Eberhard, Seidel Ulrich, Rost Imma, Mayer Karin, Abou Jamra Rami, Mitter Diana, Kornak Uwe

Abstract excerpt

Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This...

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PMID: 28742248
DOI: 10.1002/ajmg.a.38345

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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