Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
Author:
Funder
National Research Foundation of Korea
Ministry of Education
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference27 articles.
1. Mandibulofacial dysostosis with microcephaly: an expansion of the phenotype via parental survey;Abell;Am. J. Med. Genet.,2020
2. Targeted next-generation sequencing in the diagnosis of facial dysostoses;Bukowska-Olech;Front. Genet.,2020
3. Application of whole exome sequencing to identify disease-causing variants in inherited human diseases;Goh;Genomics Inform,2012
4. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia;Gordon;J. Med. Genet.,2012
5. Understanding intestinal vulnerability to perforation in the extremely low birth weight infant;Gordon;Pediatr. Res.,2009
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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. AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes;Frontiers in Pediatrics;2023-08-17
3. CHARGE syndrome, from occurrence to treatment;Human Gene;2023-05
4. A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type;The Cleft Palate-Craniofacial Journal;2022-11-01
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