Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Gene Therapy / Novel Therapeutics]
Bounemra M (2026). [PMID: 41483181](https://pubmed.ncbi.nlm.nih.gov/41483181/). *Childs Nerv Syst*. [Diagnostic / Biomarker]
Latremouille GS (2026). [PMID: 40415555](https://pubmed.ncbi.nlm.nih.gov/40415555/). *J Palliat Med*. [Case Report / Case Series]
Fetecau AC (2026). [PMID: 41330542](https://pubmed.ncbi.nlm.nih.gov/41330542/). *Eur J Med Genet*. [Case Report / Case Series]
Liu L (2026). [PMID: 42083041](https://pubmed.ncbi.nlm.nih.gov/42083041/). *J Med Case Rep*. [Case Report / Case Series]
Seki E (2025). [PMID: 39807613](https://pubmed.ncbi.nlm.nih.gov/39807613/). *Clin Dysmorphol*. [Case Report / Case Series]
Muir CR (2025). [PMID: 39757347](https://pubmed.ncbi.nlm.nih.gov/39757347/). *Prenat Diagn*. [Case Report / Case Series]
Bulus WS (2025). [PMID: 41169828](https://pubmed.ncbi.nlm.nih.gov/41169828/). *Niger Med J*. [Case Report / Case Series]
Pasquali C (2025). [PMID: 39994065](https://pubmed.ncbi.nlm.nih.gov/39994065/). *Childs Nerv Syst*. [Clinical Trial Publication]
Bano S (2025). [PMID: 39897870](https://pubmed.ncbi.nlm.nih.gov/39897870/). *Heliyon*. [Case Report / Case Series]
