Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations

Author:

Vasilyeva T.A.1,Voskresenskaya A.A.2,Käsmann-Kellner B.3,Khlebnikova O.V.1,Pozdeyeva N.A.2,Bayazutdinova G.M.1,Kutsev S.I.14,Ginter E.K.1,Semina E.V.5,Marakhonov A.V.16ORCID,Zinchenko R.A.14

Affiliation:

1. Federal State Budgetary Institution ‘Research Center for Medical Genetics’; Moscow Russian Federation

2. Department of Ambulant Surgery and Conservative Treatment; Cheboksary Branch of S. Fyodorov Eye Microsurgery Federal State Institution; Cheboksary Russian Federation

3. German Aniridia Center at the Section of Pediatric Ophthalmology, Orthoptics, Low Vision & Neuroophthalmology, Department of Ophthalmology; Saarland University Homburg/Saar; Germany

4. Department of Molecular and Cell Genetics; Pirogov Russian National Research Medical University; Moscow Russian Federation

5. Division of Developmental Biology, Department of Pediatrics; Medical College of Wisconsin; Milwaukee Wisconsin

6. Laboratory of Functional Analysis of the Genome; Moscow Institute of Physics and Technology (State University); Dolgoprudny Moscow Region Russian Federation

Funder

Russian Foundation for Basic Research

Russell Sage Foundation

Charity Fund “Sozidaniye.”

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

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