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Article

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.

International journal of molecular sciences - 20 Feb 2021

Alesi Viola, Sessini Francesca, Genovese Silvia, Calvieri Giusy, Sallicandro Ester, Ciocca Laura, Mingoia Maura, Novelli Antonio, Moi Paolo

Abstract excerpt

Distal Arthrogryposis type 5D (DA5D) is characterized by congenital contractures involving the distal joints, short stature, scoliosis, ptosis, astigmatism, and dysmorphic features. It is inherited in an autosomal recessive manner, and it is a result of homozygous or compound heterozygous variants in the ECEL1 gene. Here, we report two patients of Sardinian origin harboring a new intronic homozygous variant in...

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Identifiers

PMID: 33672664
DOI: 10.3390/ijms22042106
PMCID: PMC7924324

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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