A KIAA0586 c.1815G>A Founder Allele Associated with Short-Rib Polydactyly Syndrome Type IV in Romani Families
Richárd Kellermayer, Muhammad Farooq, Judit Bene, Nursel H Elcioglu, R. Alan Harris, Reka G. Szigeti, Alexandra Tészás, Niels Tommerup, Lars Allan Larsen, Bela Melegh, Kinga Hadzsiev
The paper identifies a KIAA0586 c.1815G>A founder allele associated with short-rib polydactyly syndrome type IV in Romani families and reports its higher frequency in Hungarian Romani individuals.
medRxiv · Sep 30, 2026 · PreprintGenetic & Genomic Medicine