Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly

• Главные авторы: Ekaterina Lyulcheva-Bennett (Автор), Christopher Kershaw (Автор), Eleanor Baker (Автор), Stuart Gillies (Автор), Emma McCarthy (Автор), Jenny Higgs (Автор), Natalie Canham (Автор), Dawn Hennigan (Автор), Chris Parks (Автор), Daimark Bennett (Автор)
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• Опубликовано: BMC, 2024-09-01T00:00:00Z.
• Предметы: article
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Abstract Background Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP binding domain-containing 2 (EFTUD2) g...