Chen L (2026). [PMID: 41982260](https://pubmed.ncbi.nlm.nih.gov/41982260/). *Front Pediatr*. [Case Report / Case Series]
Dukuze N (2026). [PMID: 42074547](https://pubmed.ncbi.nlm.nih.gov/42074547/). *Genes (Basel)*. [Case Report / Case Series]
Morana E (2026). [PMID: 41611076](https://pubmed.ncbi.nlm.nih.gov/41611076/). *European journal of medical genetics*. [Case Report / Case Series]
Draidi T (2026). [PMID: 42256321](https://pubmed.ncbi.nlm.nih.gov/42256321/). *Case Rep Endocrinol*. [Case Report / Case Series]
Aleisa ZA (2026). [PMID: 41966785](https://pubmed.ncbi.nlm.nih.gov/41966785/). *Neuromuscul Disord*. [Case Report / Case Series]
Dodd AC (2026). [PMID: 41643767](https://pubmed.ncbi.nlm.nih.gov/41643767/). *Journal of pediatric surgery*. [Case Report / Case Series]
Quintana K (2026). [PMID: 40776660](https://pubmed.ncbi.nlm.nih.gov/40776660/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Kawai Y (2026). [PMID: 41729339](https://pubmed.ncbi.nlm.nih.gov/41729339/). *Neurogenetics*. [Case Report / Case Series]
Yu X (2026). [PMID: 42183258](https://pubmed.ncbi.nlm.nih.gov/42183258/). *Front Immunol*. [Case Report / Case Series]
Hildebrandt C (2025). [PMID: 40661861](https://pubmed.ncbi.nlm.nih.gov/40661861/). *Neurology. Genetics*. [Epidemiology / Natural History]
