Expanding the Phenotypic Spectrum of <i>ECEL1</i>-Associated Distal Arthrogryposis
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 (...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Book |
| Published: |
MDPI AG,
2021-10-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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