Upadhyaya V (2026). [PMID: 41661317](https://pubmed.ncbi.nlm.nih.gov/41661317/). *Skeletal Radiol*. [Case Report / Case Series]
Yazbeck E (2026). [PMID: 41760509](https://pubmed.ncbi.nlm.nih.gov/41760509/). *Arch Pediatr*. [Other]
Zhang Z (2025). [PMID: 38916435](https://pubmed.ncbi.nlm.nih.gov/38916435/). *Protein Cell*. [Gene Therapy / Novel Therapeutics]
Chapleau A (2025). [PMID: 41315317](https://pubmed.ncbi.nlm.nih.gov/41315317/). *NPJ Genom Med*. [Review / Meta-Analysis]
Brao A (2025). [PMID: 40051162](https://pubmed.ncbi.nlm.nih.gov/40051162/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Fumagalli F (2025). [PMID: 40267426](https://pubmed.ncbi.nlm.nih.gov/40267426/). *N Engl J Med*. [Clinical Trial Publication]
Zambon AA (2025). [PMID: 40286327](https://pubmed.ncbi.nlm.nih.gov/40286327/). *Brain*. [Clinical Trial Publication]
Mohammed C (2025). [PMID: 40247960](https://pubmed.ncbi.nlm.nih.gov/40247960/). *Radiol Case Rep*. [Case Report / Case Series]
McCarron EP (2025). [PMID: 40017455](https://pubmed.ncbi.nlm.nih.gov/40017455/). *Am J Med Genet A*. [Case Report / Case Series]
Rabin R (2025). [PMID: 39473378](https://pubmed.ncbi.nlm.nih.gov/39473378/). *Am J Med Genet A*. [Case Report / Case Series]
