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

Document Type

Article

Author

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

Source

In European Journal of Medical Genetics November 2023 66(11)

Subject

Language

ISSN

1769-7212

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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