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PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect

Author / Organization: Silvestre Cuinat, Chloé Quélin, Laurent Pasquier, Philippe Loget, Dominique Aussel, Sylvie Odent, Annie Laquerrière, Maia Proisy, Sylvie Mazoyer, Marion Delous, Patrick Edery, Nicolas Chatron, Gaetan Lesca, Audrey Putoux

File Format PDF (Portable Document Format)
Publication Year 2023
Source Host HAL Open Science (hal.science)
License / Terms Open Access / Creative Commons

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