Associated Papers
A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.
Aris KL et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2026
EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase-3 and Aifm1 Splicing Pathways.
Chen L et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
Matsuo M et al.
Brain & Development, 2017
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L et al.
Human Mutation, 2016
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.
Smigiel R et al.
Journal of Applied Genetics, 2015
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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