OTX2 Duplication Is Implicated in Hemifacial Microsomia

Keywords

Hemifacial microsomia, Gene duplication, Craniofacial, Proband, Genetics

References

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Cited by

• Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2Panagiotis I. Sergouniotis, Jill Urquhart, Simon G. Williams — 2015
• Craniofacial Microsomia OverviewCarrie L. Heike, Daniela V. Luquetti, Anne Hing — 2014
• Candidate gene prioritization with EndeavourLéon-Charles Tranchevent, Amin Ardeshirdavani, Sarah ElShal — 2016
• Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Qing Fang, Akima S George, Michelle L. Brinkmeier — 2016
• Maxillofacial features and systemic malformations in expanded spectrum Hemifacial MicrosomiaNoah Cohen, Erica Cohen, Alberto Gaiero — 2017
• Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.Shankar Rengasamy Venugopalan, Emily Farrow, Michael Lypka — 2017
• Nasal DNA methylation differentiates corticosteroid treatment response in pediatric asthma: A pilot studyXue Zhang, Jocelyn M. Biagini Myers, Veda K. Yadagiri — 2017
• Update on 13 Syndromes Affecting Craniofacial and Dental StructuresTheodosia Bartzela, Carine Carels, Jaap C. Maltha — 2017
• Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancyPavlína Čapková, A Santavá, I. Markova — 2017
• Genomic associations with bill length and disease reveal drift and selection across island bird populationsClaire Armstrong, David S. Richardson, Helen Hipperson — 2018
• Structural comparison of hemifacial microsomia mandible in different age groups by three-dimensional skeletal unit analysis.Bong-Chul Kim, Hélios Bertin, Hak‐Jin Kim — 2018
• Etiology and Pathogenesis of Hemifacial MicrosomiaQiming Chen, Yan Zhao, Guofang Shen — 2018
• A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.Shankar Rengasamy Venugopalan, Emily Farrow, Pedro A. Sanchez‐Lara — 2019
• MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cellsAkiko Suzuki, Aimin Li, Mona Gajera — 2019
• Volumetric characteristics of prognathic mandible revealed by skeletal unit analysis.Seong Ho Mun, Mira Park, Jun Lee — 2019
• Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)Malú Zamariolli, Mileny Esbravatti Stephano Colovati, Mariana Moysés‐Oliveira — 2019
• The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerationsMiriam Ehrenberg, Shirel Weiss, Naama Orenstein — 2019
• SPECC1L regulates palate development downstream of IRF6.Everett G. Hall, Luke W. Wenger, Nathan R. Wilson — 2020
• Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic ReviewAndressa Barreto Glaeser, Bruna Lixinski Diniz, Desirée Deconte — 2020
• Three-Dimensional Planning of the Mandibular Margin in Hemifacial Microsomia Using a Printed Patient-Specific Implant.Sebastian Igelbrink, Leonardo Matos Santolim Zanettini, Lauren Bohner — 2020

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