Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations-Reference-Cited by-同舟云学术

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Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations

Published:2016-02-05 Issue:3 Volume:37 Page:307-313
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Primignani Paola¹,Allegrini Davide²,Manfredini Emanuela¹,Romitti Lorenza³,Mauri Lucia¹,Patrosso Maria Cristina¹,Veniani Emanuela¹,Franzoni Alessandra⁴,Del Longo Alessandra²,Gesu Giovanni Pietro¹,Piozzi Elena²,Damante Giuseppe⁴,Penco Silvana¹

Affiliation:

1. Department of Laboratory Medicine, Medical Genetics, Niguarda Ca’ Granda Hospital, Milan, Italy

2. Pediatric Ophthalmology, Niguarda Ca’ Granda Hospital, Milan, Italy

3. Department of Laboratory Medicine, Pathology and Cytogenetics, Niguarda Ca’ Granda Hospital, Milan, Italy

4. Institute of Genetics, Azienda Ospedaliero-Universitaria Udine, Udine, Italy

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.3109/13816810.2015.1059459

Reference22 articles.

1. Corneal Changes in Aniridia

2. Aniridia. A review

3. Association of Wilms's Tumor with Aniridia, Hemihypertrophy and Other Congenital Malformations

4. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

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1. Genetic Analysis by NGS and MLPA in Chinese Aniridia Patients;2023-08-16

2. Genetics of Microphthalmia: Global and Indian Perspectives;Essentials in Ophthalmology;2021

3. Heterozygous PAX6 mutations may lead to hyper‐proinsulinaemia and glucose intolerance: A case–control study in families with congenital aniridia;Diabetic Medicine;2020-12

4. Pupillary Disorders;Liu, Volpe, and Galetta's Neuro-Ophthalmology;2019

5. Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation;Molecular Medicine Reports;2018-06-05

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