A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child

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 th...

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Detalhes bibliográficos
Publicado no:Med Princ Pract
Main Authors: Hamzeh, Abdul Rezzak, Nair, Pratibha, Mohamed, Madiha, Saif, Fatima, Tawfiq, Nafisa, Khalifa, Mohamed, Al-Ali, Mahmoud Taleb, Bastaki, Fatma
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5588382/
https://ncbi.nlm.nih.gov/pubmed/28114145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000456034
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