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TITLE: Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome  Full Text
AUTHORS: Sergio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlova; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; Gudrun E Moore; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 27