Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms-Reference-Cited by-同舟云学术

Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms

Published:2021-04-21 Issue:7 Volume:185 Page:2056-2064
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Zamariolli Malú¹,Burssed Bruna¹,Moysés‐Oliveira Mariana¹,Colovati Mileny¹^ORCID,Bellucco Fernanda Teixeira da Silva¹,Santos Leonardo Caires¹,Alvarez Perez Ana Beatriz¹,Bragagnolo Silvia¹,Melaragno Maria Isabel¹^ORCID

Affiliation:

1. Division of Genetics, Department of Morphology and Genetics Universidade Federal de São Paulo São Paulo Brazil

Funder

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62217

Reference46 articles.

1. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

2. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

3. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

4. Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients

5. A novel de novo mutation in MYT1, the unique OAVS gene identified so far

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