Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns-Reference-Cited by-同舟云学术

Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns

Published:2017-08-21 Issue:6 Volume:5 Page:709-719
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Riera Marina¹^ORCID,Wert Ana²,Nieto Isabel³,Pomares Esther¹

Affiliation:

1. Departament de Genètica; Institut de Microcirurgia Ocular (IMO); Barcelona Spain

2. Departament d'Oftalmologia Pediàtrica, Estrabisme i Neuroftalmologia; Institut de Microcirurgia Ocular (IMO); Barcelona Spain

3. Departament de Còrnia, Cataracta i Cirurgia Refractiva; Institut de Microcirurgia Ocular (IMO); Barcelona Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.329/fullpdf

Reference44 articles.

1. The TINS Lecture. Understanding the roles of Otx1 and Otx2 in the control of brain morphogenesis;Acampora;Trends Neurosci.,1999

2. Missense mutations in the PAX6 gene in aniridia;Azuma;Invest. Ophthalmol. Vis. Sci.,1998

3. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations;Azuma;Am. J. Hum. Genet.,2003

4. The genetics of anophthalmia and microphthalmia;Bardakjian;Curr. Opin. Ophthalmol.,2011

5. Bardakjian , T. A. Weiss A. Schneider Microphthalmia/Anophthalmia/Coloboma spectrum in R. A. Pagon M. P. Adam H. H. Ardinger GeneReviews ® [Internet] Seattle (WA) University of Washington https://www.ncbi.nlm.nih.gov/books/NBK1378/

Cited by 23 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. Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients;Gene;2024-10

2. Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations;Journal of Medical Genetics;2023-08-16

3. Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity;British Journal of Ophthalmology;2022-04-05

4. Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia;Clinical Case Reports;2022-03

5. The Special Senses;Keeling's Fetal and Neonatal Pathology;2022