Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly

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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Bibliographic Details
Main Authors: Ekaterina Lyulcheva-Bennett, Christopher Kershaw, Eleanor Baker, Stuart Gillies, Emma McCarthy, Jenny Higgs, Natalie Canham, Dawn Hennigan, Chris Parks, Daimark Bennett
Format: Article
Language:English
Published: BMC 2024-09-01
Series:BMC Medical Genomics
Subjects:
Achondroplasia
Mandibulofacial dysostosis with microcephaly
Dual molecular diagnosis
Whole genome sequencing
Deep phenotyping
Blended phenotype
Online Access:https://doi.org/10.1186/s12920-024-01999-0

Internet

https://doi.org/10.1186/s12920-024-01999-0

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