Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly

• Main Authors: Ekaterina Lyulcheva-Bennett (Author), Christopher Kershaw (Author), Eleanor Baker (Author), Stuart Gillies (Author), Emma McCarthy (Author), Jenny Higgs (Author), Natalie Canham (Author), Dawn Hennigan (Author), Chris Parks (Author), Daimark Bennett (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...