Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia-Reference-Cited by-同舟云学术

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia

Published:2021-11-12 Issue:2 Volume:188 Page:642-647
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Wawrocka Anna¹^ORCID,Walczak‐Sztulpa Joanna¹,Socha Magdalena¹,Kuszel Lukasz¹,Sowinska‐Seidler Anna¹,Budny Bartlomiej²,Bukowska‐Olech Ewelina¹,Pilas‐Pomykalska Magdalena³,Jamsheer Aleksander¹⁴^ORCID,Krawczynski Maciej R.¹⁴

Affiliation:

1. Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland

2. Department of Endocrinology, Metabolism and Internal Medicine Poznan University of Medical Sciences Poznan Poland

3. Department of Ophthalmology Polish Mother's Memorial Hospital Research Institute Lodz Poland

4. Centers for Medical Genetics GENESIS Poznan Poland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62559

Reference25 articles.

1. Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

2. A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group

3. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

4. Mutations in proteasome-related genes are associated with thyroid hemiagenesis

5. A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family;Cheng F.;Molecular Vision,2011

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1. A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia;BMC Ophthalmology;2023-09-26

2. Novel variants in the PAX6 gene related to isolated aniridia;Congenital Anomalies;2023-05-16