Associated Papers
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
Ulhaq ZS et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
Thomas HB et al.
Human Mutation, 2020
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
Matsuo M et al.
Brain & Development, 2017
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Sarkar A et al.
American Journal of Medical Genetics. Part A, 2015
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