Array-CGH is an effective first-tier diagnostic test forEFTUD2-associated congenital mandibulofacial dysostosis with microcephaly
Author:
Affiliation:
1. Department of Clinical Diagnostics and Genetic Counseling; Ambry Genetics; Aliso Viejo CA USA
2. Neonatal-Perinatal Medicine; University of Arkansas/Arkansas Children's Hospital; Little Rock AR USA
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference10 articles.
1. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly;Lines;Am J Hum Genet,2012
2. Mandibulofacial dysostosis with microcephaly caused by EFTUD2 mutations: expanding the phenotype;Luquetti;Am J Med Genet A,2013
3. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia;Gordon;J Med Genet,2012
4. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies-expanding the phenotypes associated with EFTUD2 mutations;Voigt;Orphanet J Rare Dis,2013
5. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms;Pannizzi;Nat Genet,2012
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1. Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2;Molecular Genetics & Genomic Medicine;2024-04
2. A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type;The Cleft Palate-Craniofacial Journal;2022-11-01
3. Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei;Clinical Dysmorphology;2021-10-22
4. Over-activation of EFTUD2 correlates with tumor propagation and poor survival outcomes in hepatocellular carcinoma;Clinical and Translational Oncology;2021-07-19
5. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey;American Journal of Medical Genetics Part A;2020-11-27
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