A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation-Reference-Cited by-同舟云学术

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A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation

Published:2015-01-22 Issue:1 Volume:8 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Hu Ping,Meng Lulu,Ma Dingyuan,Qiao Fengchang,Wang Yan,Zhou Jing,Yi Long,Xu Zhengfeng

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-015-0110-2.pdf

Reference29 articles.

1. Blanco-Kelly F, Villaverde-Montero C, Lorda-Sanchez I, Millan JM, Trujillo-Tiebas MJ, Ayuso C. Guidelines for genetic study of aniridia. Arch Soc Esp Oftalmol. 2013;88:145–52.

2. Hingorani M, Hanson I, van Heyningen V. Aniridia. Eur J Hum Genet 2012;20:1011–7

3. Simpson TI, Price DJ. Pax6; a pleiotropic player in development. Bioessays. 2002;24:1041–51.

4. van Heyningen V, Williamson K. PAX6 in sensory development. Hum Mol Genet. 2002;11:1161–7.

5. Vincent M, Pujo A, Olivier D, Calvas P. Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects 2003;11:163–69.

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1. Pax6 isoforms shape eye development: Insights from developmental stages and organoid models;Differentiation;2024-05

2. Psychoneurological Disorders in Children with Congenital Aniridia and <i>PAX6</i>-Associated Syndromes;Current Pediatrics;2023-08-25

3. A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD;BMC Medical Genomics;2023-08-04

4. Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review;Molecular Syndromology;2022-02-11

5. Clinical and molecular aspects of congenital aniridia – A review of current concepts;Indian Journal of Ophthalmology;2022

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