Paediatrics
Paediatrics

First case report of STAG2-associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother

Clin Dysmorphol. 2025 Jul 15. doi: 10.1097/MCD.0000000000000537. Online ahead of print. NO ABSTRACT PMID:40762968 | DOI:10.1097/MCD.0000000000000537

Visuospatial and Visuomotor Abilities of Individuals with Neurofibromatosis Type 1: A Systematic Review and Meta-analysis

Neuropsychol Rev. 2025 Aug 5. doi: 10.1007/s11065-025-09673-7. Online ahead of print. ABSTRACT This meta-analysis estimated the group differences between individuals with and without neurofibromatosis type …