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Article

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

BMC medical genomics - 6 Sept 2024

Lyulcheva-Bennett Ekaterina, Kershaw Christopher, Baker Eleanor, Gillies Stuart, McCarthy Emma, Higgs Jenny, Canham Natalie, Hennigan Dawn, Parks Chris, Bennett Daimark

Abstract excerpt

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) gene variants, respectively. The coexistence of two distinct Mendelian disorders in a single individual is uncommon and...

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Identifiers

PMID: 39243045
DOI: 10.1186/s12920-024-01999-0
PMCID: PMC11378366

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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