Świąder-Leśniak A (2026). [PMID: 42163355](https://pubmed.ncbi.nlm.nih.gov/42163355/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Zhang L (2026). [PMID: 41918381](https://pubmed.ncbi.nlm.nih.gov/41918381/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Clinical Trial Publication]
Hara-Isono K (2025). [PMID: 41204329](https://pubmed.ncbi.nlm.nih.gov/41204329/). *Clinical epigenetics*. [Basic Science / Preclinical]
Begemann M (2025). [PMID: 40307819](https://pubmed.ncbi.nlm.nih.gov/40307819/). *Clinical epigenetics*. [Basic Science / Preclinical]
Fang HH (2025). [PMID: 40361928](https://pubmed.ncbi.nlm.nih.gov/40361928/). *Diagnostics (Basel, Switzerland)*. [Basic Science / Preclinical]
D'Angelo E (2025). [PMID: 41276848](https://pubmed.ncbi.nlm.nih.gov/41276848/). *Clinical epigenetics*. [Case Report / Case Series]
Braga BL (2025). [PMID: 39586716](https://pubmed.ncbi.nlm.nih.gov/39586716/). *Clinical genetics*. [Review / Meta-Analysis]
Vimercati A (2025). [PMID: 41429883](https://pubmed.ncbi.nlm.nih.gov/41429883/). *Scientific reports*. [Case Report / Case Series]
Mohamed AM (2025). [PMID: 40730975](https://pubmed.ncbi.nlm.nih.gov/40730975/). *BMC Pediatr*. [Basic Science / Preclinical]
de Souza VS (2025). [PMID: 39846526](https://pubmed.ncbi.nlm.nih.gov/39846526/). *Clinical genetics*. [Case Report / Case Series]
