Associated Papers
A novel EFTUD2 splicing variant causing mandibulofacial dysostosis with microcephaly: a case report.
Xu Y et al.
Translational Pediatrics, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
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
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
Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea.
Kim SY et al.
Diagnostics (basel, Switzerland), 2020
32408545 (PubMed )
Supplement: diagnostics-10-00296-s001.xlsx › Sheet1__3_
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