A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child
A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child
About this item
Full title
Author / Creator
Publisher
Basel, Switzerland: S. Karger AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel, Switzerland: S. Karger AG
Subjects
More information
Scope and Contents
Contents
Objective: The aim of this work was to report a case of an Emirati child who presented with developmental delay and multiple congenital abnormalities that are consistent with distal arthrogryposis type 5D. Clinical Presentation and Intervention: The clinical presentation comprised contractures of the shoulders, elbows, and knees in addition to camp...
Alternative Titles
Full title
A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmed_primary_28114145
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_28114145
Other Identifiers
ISSN
1011-7571
E-ISSN
1423-0151
DOI
10.1159/000456034
