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PHGDH-related Microcephalic Dwarfism in Two Fetuses: Expanding the Phenotypical Spectrum of L-serine Biosynthesis Defect.

Silvestre Cuinat,Laurent Pasquier,Philippe Loget,Dominique Aussel,Sylvie Odent,Maia Proisy,Sylvie Mazoyer,Marion Delous,Patrick Edery,Nicolas Chatron,Gaetan Lesca,Audrey Putoux,Annie Laquerri,Chloe Quelin

European Journal of Medical Genetics（2023）

引用 0|浏览34
关键词
Serine biosynthesis defect,Neu Laxova syndrome,Microcephalic dwarfism,Fetus,PHGDH
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