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Article

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.

Pediatric neurology - 1 Oct 2014

Tosun Ayşe, Kurtgoz Serkan, Dursun Siar, Bozkurt Gokay

Abstract excerpt

BACKGROUND: The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe muscle hypotonia at birth, and kyphoscoliosis. PATIENT: We describe a 3-year-old girl with the kyphoscoliotic type of the Ehlers-Danlos syndrome whose parents were cousins. She was born with breech presentation by vaginal delivery at...

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Source

Identifiers

PMID: 25266621
DOI: 10.1016/j.pediatrneurol.2014.06.020

Genes

PLOD1

Variants

Provenance

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 case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.PMID 25266621Read ↗

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