Kornak U, Saha N, Keren B, Neumann A, Taylor Tavares AL, Piard J, Kopp J, Rodrigues Alves JG, Rodriguez de Los Santos M, El Choubassi N, Ehmke N, Jager M, Spielmann M, Pantel JT, Lejeune E, Fauler B, Mielke T, Hecht J, Meierhofer D, Strom TM, Laugel V, Brice A, Mundlos S, Bertoli-Avella A, Bauer P, Heyd F, Boute O, Dupont J, Depienne C, Van Maldergem L, Fischer-Zirnsak B

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

Genet Med 24:1927-1940 (2022)
DOI:10.1016/j.gim.2022.05.004