Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

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TitleLoss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
DateNovember 1st, 2023
Issue nameNature Genetics
Issue numberv55.11 p1929-1940
DOI10.1038/s41588-023-01535-3
AuthorsSchuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem M, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet M, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson J, Funalot B, Authier F, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J, Vanlander AV, Verloo P, Coucke PJ, Poppe B, Impens F, Mizushima N, Depienne C, Jéru I & Dermaut B
InfoProgram for Undiagnosed Diseases (UD-PrOZA)
MTGsMTG3
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