Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Kopp J, Koch LA, Lyubenova H, Kuchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B
Hum Genet. 2024 May;143(5):683-694. doi: 10.1007/s00439-024-02669-y. Epub 2024 Apr 9.
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