Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly
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...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
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BMC,
2024-09-01T00:00:00Z.
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