Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome-Reference-Cited by-同舟云学术

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome

Published:2020-05-13 Issue:7 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Lo Faro Valeria¹²^ORCID,Siddiqui Sorath N.³,Khan Muhammad I.⁴,Villanueva‐Mendoza Cristina⁵,Cortés‐González Vianney⁵,Jansonius Nomdo²,Bergen Arthur A. B.¹⁶⁷,Micheal Shazia¹

Affiliation:

1. Department of Clinical Genetics University Medical Center (UMC) University of Amsterdam (UvA) Amsterdam The Netherlands

2. Department of Ophthalmology University Medical Center Groningen (UMCG) University of Groningen (RUG) Groningen The Netherlands

3. Department of Pediatric Ophthalmology and Strabismus Al‐Shifa Eye Trust Hospital Rawalpindi Pakistan

4. Department of Human Genetics Donders Institute for Brain Cognition and Behaviour Radboud UMC Nijmegen The Netherlands

5. Department of Genetics Asociación Para Evitar la Ceguera en México México México

6. Department of Ophthalmology Universitair Medische Centre (UMC) University of Amsterdam (UvA) Amsterdam The Netherlands

7. The Netherlands Institute for Neurosciences (NIN‐KNAW) Amsterdam The Netherlands

Funder

European Union Horizon 2020 research and innovation program under the Marie Skłodowska-Curie

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1215

Reference37 articles.

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4. Closing in on the Rieger syndrome gene on 4q25: Mapping translocation breakpoints within a 50‐kb region;Datson N. A.;American Journal of Human Genetics,1996

5. Expanding the Spectrum ofFOXC1andPITX2Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

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