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SOX2anophthalmia syndrome and dental anomalies

Published:2015-08-06 Issue:11 Volume:167 Page:2830-2833
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chacon-Camacho Oscar Francisco¹,Fuerte-Flores Bertha Irene¹,Ricardez-Marcial Edgar F.²,Zenteno Juan Carlos¹³

Affiliation:

1. Genetics Department-Research Unit; Institute of Ophthalmology “Conde de Valenciana”; Mexico City Mexico

2. Departamento de Genética Médica, UMAE; Hospital General “Dr. Gaudencio González Garza”; Centro Médico Nacional La Raza, IMSS; Mexico City Mexico

3. Department of Biochemistry; Faculty of Medicine, UNAM; Mexico City Mexico

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37277/fullpdf

Reference21 articles.

1. Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: A new entity?;Arroyo;Am J Med Genet,1992

2. SOX2 anophthalmia syndrome: 12 New cases demonstrating broader phenotype and high frequency of large gene deletions;Bakrania;Br J Ophthalmol,2007

3. Mutations in SOX2 cause anophthalmia;Fantes;Nat Genet,2003

4. Clinical and mutation analysis of 51 probands with anophthamia and/or severe microphthalmia from a single center;Gerth-Kahlert;Mol Genet Genomic Med,2013

5. Sox2 marks epithelial competence to generate teeth in mammals and reptiles;Juuri;Development,2013

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas;Diagnostics;2023-03-23

2. Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation;Biology;2023-03-01

3. Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics;Acta Ophthalmologica;2020-02-25

4. Tracking diphyodont development in miniature pig in vitro and in vivo;Biology Open;2019-01-01

5. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma;American Journal of Medical Genetics Part A;2018-11-18

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