Associated Papers
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
Endrakanti M et al.
American Journal of Medical Genetics. Part A, 2024
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.
Gowda M et al.
Clinical Dysmorphology, 2021
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.
Jin JY et al.
Biomed Research International, 2020
Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.
Nagata K et al.
Acta Neuropathologica Communications, 2017
ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
Dohrn N et al.
American Journal of Medical Genetics. Part A, 2015
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.
Shaheen R et al.
Clinical Genetics, 2014
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K et al.
Human Molecular Genetics, 2013
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