Scientific Article 🇬🇧 Mentions KS

Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations

person MedScience / Springer Nature Link

calendar_today Feb 14, 2026

Research article on a Chinese Fanconi anemia family identifying FANCA mutations and an EHMT1 variant co-segregating with ectrodactyly. It mentions Kleefstra syndrome in the context of EHMT1-related literature, but the main focus is Fanconi anemia differential diagnosis.