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What is New ECEL1 Variant in Distal Arthrogryposis about?

This case report describes two patients with Distal Arthrogryposis Type 5D (DA5D) who have a new intronic homozygous variant in the ECEL1 gene (c.1507-9G>A), which is predicted to affect mRNA splicing. Both patients exhibit classical DA5D features, including severe camptodactyly, scoliosis, and other skeletal and muscular abnormalities. The variant

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wesleycosta246810

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EN