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Article

Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.

Clinical dysmorphology - 1 Apr 2021

Gowda Mamatha, Mohan Shruthi, Ramesh Devika, Chinta Navya

Abstract excerpt

Distal arthrogryposis (DA) is a heterogeneous group of disorders with congenital, nonprogressive contractures affecting the joints of distal extremities. About 13 distinct subtypes have been defined based on phenotypic features and the different genes known to be causative typically encode for sarcomeric proteins of the contractile apparatus. Although most subtypes are inherited in autosomal dominant manner,...

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PMID: 33491998
DOI: 10.1097/MCD.0000000000000364

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Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.PMID 33491998Read ↗

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Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.Semantic proximity Read ↗

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.Semantic proximity Read ↗

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.Semantic proximity Read ↗

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