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
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_
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
Matsuo M et al.
Brain & Development, 2017
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Gordon CT et al.
Journal of Medical Genetics, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Lines MA et al.
American Journal of Human Genetics, 2012
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