Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in ECEL1. We describe two consanguineous families (three patients) with novel ECEL1 gene mutations detected by next-generation sequencing (NGS). A 12-year-old boy (patient 1) presented with birth asphyx...

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Detalles Bibliográficos
Autores principales: Huddar, Akshata, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Bardhan, Mainak, Unnikrishnan, Gopikrishnan, Nashi, Saraswati, Vengalil, Seena, Priyadarshini, Priyanka, Kulanthaivelu, Karthik, Arunachal, Gautham, Lochmüller, Hanns, Nalini, Atchayaram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534696/
https://www.ncbi.nlm.nih.gov/pubmed/34682174
http://dx.doi.org/10.3390/children8100909

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534696/
https://www.ncbi.nlm.nih.gov/pubmed/34682174
http://dx.doi.org/10.3390/children8100909

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