Taciane Alegra
No ORCID on file
· 1 paper in corpus
· active 2026
Study types
- case-report 1
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case-report
2026
The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with coars…