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Article

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

American journal of medical genetics. Part A - 1 Jun 2018

Stattin Eva-Lena, Johansson Josefin, Gudmundsson Sanna, Ameur Adam, Lundberg Staffan, Bondeson Marie-Louise, Wilbe Maria

Abstract excerpt

Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. We aimed to genetically and clinically characterize a boy from a consanguineous family, presenting with...

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Source

Identifiers

PMID: 29663639
DOI: 10.1002/ajmg.a.38691

Genes

ECEL1
MUSK

Variants

Provenance

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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A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.PMID 29663639Read ↗

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Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Semantic proximity Read ↗

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