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Title
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Authors
Sousa SB; Jenkins D; Chanudet E; Tasseva G; Ishida M; Anderson G; Docker J; Ryten M; Sa J; Saraiva JM; Barnicoat A; Scott R; Calder A; Wattanasirichaigoon D; Chrzanowska K; Simandlová M; Van Maldergem L; Stanier P; Beales PL; Vance JE; Moore GE