Expanding the Phenotypic Spectrum of <i>ECEL1</i>-Associated Distal Arthrogryposis

• Hoofdauteurs: Akshata Huddar (Auteur), Kiran Polavarapu (Auteur), Veeramani Preethish-Kumar (Auteur), Mainak Bardhan (Auteur), Gopikrishnan Unnikrishnan (Auteur), Saraswati Nashi (Auteur), Seena Vengalil (Auteur), Priyanka Priyadarshini (Auteur), Karthik Kulanthaivelu (Auteur), Gautham Arunachal (Auteur), Hanns Lochmüller (Auteur), Atchayaram Nalini (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2021-10-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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