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
36317361 (PubMed )
Supplement: sj-xlsx-1-cpc-10.1177_10556656221136177.xlsx › Supp._Table_2
A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.
Yang M et al.
Journal of Clinical Laboratory Analysis, 2022
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Beauchamp MC et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020
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
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Lehalle D et al.
Human Mutation, 2014
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Gordon CT et al.
Journal of Medical Genetics, 2012
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