Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Kopp J, Koch LA, Lyubenova H, Küchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B.
Kopp J, et al. Among authors: koch la.
Hum Genet. 2024 Apr 9. doi: 10.1007/s00439-024-02669-y. Online ahead of print.
Hum Genet. 2024.
PMID: 38592547