PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
| Autor: | Cuinat, Silvestre, Quélin, Chloé, Pasquier, Laurent, Loget, Philippe, Aussel, Dominique, Odent, Sylvie, Laquerrière, Annie, Proisy, Maia, Mazoyer, Sylvie, Delous, Marion, Edery, Patrick, Chatron, Nicolas, Lesca, Gaetan, Putoux, Audrey |
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| Zdroj: | In European Journal of Medical Genetics November 2023 66(11) |
| Databáze: | ScienceDirect |
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