Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/7845
Title: Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes
Authors: Shaaban, S.
Düzcan, Füsun
Yildirim, C.
Chan, W.-M.
Andrews, C.
Akarsu, N.A.
Engle, E.C.
Keywords: Arthrogryposis
Camptodactyly
Contractures
Ophthalmoplegia
endothelin converting enzyme
ECEL1 protein, human
metalloproteinase
adult
arthrogryposis
article
astigmatism
camptodactyly
child
clinical article
female
flexion contracture
gene sequence
genetic analysis
homozygosity
human
knee function
male
missense mutation
ophthalmoplegia
priority journal
ptosis
refraction error
scoliosis
consanguinity
DNA sequence
exome
genetics
genotype
homozygote
pathology
pedigree
phenotype
Turkey
Adult
Consanguinity
Exome
Female
Genotype
Homozygote
Humans
Male
Metalloendopeptidases
Mutation, Missense
Pedigree
Phenotype
Sequence Analysis, DNA
Publisher: Blackwell Publishing Ltd
Abstract: Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. ECEL1 mutations were recently reported to cause recessive forms of distal arthrogryposis. This report expands on the molecular basis and the phenotypic spectrum of ECEL1-associated congenital contracture syndromes. © 2013 John Wiley & Sons A/S.
URI: https://hdl.handle.net/11499/7845
https://doi.org/10.1111/cge.12224
ISSN: 0009-9163
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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