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Nature Genetics|November 19, 2013
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSérgio B Sousa, Dagan Jenkins, Estelle Chanudet, et al.American Journal of Medical Genetics. Part A|February 13, 2023
Nosology of genetic skeletal disorders: 2023 revisionSheila Unger, Carlos R Ferreira, Geert R Mortier, et al.American Journal of Medical Genetics. Part A|March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findingsMadeleine Tooley, Danielle Lynch, Francois Bernier, et al.American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.Thorax|October 24, 2017
International management platform for children's interstitial lung disease (chILD-EU)Matthias Griese, Elias Seidl, Meike Hengst, et al.Pageof 4