Hemifacial Microsomia
What's New
Last Posted: Mar 01, 2023
- Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.
Glaeser Andressa Barreto, et al. American journal of medical genetics. Part A 2020 0 (11) 2624-2631 - Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
Güleray Naz, et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2021 0 (9) 1114-1124 - Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.
Chen Xiaojun, et al. Frontiers in genetics 2021 0 580761 - Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Guida Valentina et al. International journal of molecular sciences 2021 Jan 22(3) - Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
Rengasamy Venugopalan S et al. Orthodontics & craniofacial research 2017 Jun 20 Suppl 150-56 - A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Berenguer Marie, et al. European journal of human genetics : EJHG 2017 6 - Genetic Screening in Patients with Craniofacial Malformations.
Yoon Amanda J et al. Journal of pediatric genetics 2016 Dec 5(4) 220-224 - Hemifacial microsomia
From NCATS Genetic and Rare Diseases Information Center
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 08, 2024
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