Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis-Reference-Cited by-同舟云学术

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Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis

Published:2017-06 Issue: Volume:20 Page:50-56
ISSN:1601-6335
Container-title:Orthodontics & Craniofacial Research
language:en
Short-container-title:Orthod Craniofac Res

Author:

Rengasamy Venugopalan S.¹,Farrow E. G.²,Lypka M.²

Affiliation:

1. School of Dentistry; University of Missouri - Kansas City; Kansas City MO USA

2. Children's Mercy Hospital; Kansas City MO USA

Funder

American Association of Orthodontist Foundation

University of Missouri-Kansas City

Publisher

Wiley

Subject

Otorhinolaryngology,Oral Surgery,Surgery,Orthodontics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ocr.12150/fullpdf

Reference27 articles.

1. Familial Goldenhar syndrome;Summitt;Birth Defects Orig Art Ser,1969

2. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia;Regenbogen;Clin Genet,1982

3. Oculoauriculovertebral anomaly: segregation analysis;Kaye;Am J Med Genet,1992

4. Family with autosomal dominant oculo-auriculo-vertebral spectrum;Tasse;Clin Dysmorphol,2007

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1. Expanding the Etiology of Oculo–Auriculo–Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36;International Journal of Molecular Sciences;2022-12-20

2. A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type;The Cleft Palate-Craniofacial Journal;2022-11-01

3. A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report;Molecular Case Studies;2022-06

4. Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?;European Journal of Medical Genetics;2022-05

5. A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly;Journal of Clinical Laboratory Analysis;2022-04-18

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