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