Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations T.A. Vasilyeva, T.A. Vasilyeva Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian FederationSearch for more papers by this authorA.A. Voskresenskaya, A.A. Voskresenskaya Department of Ambulant Surgery and Conservative Treatment, Cheboksary Branch of S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian FederationSearch for more papers by this authorB. Käsmann-Kellner, B. Käsmann-Kellner German Aniridia Center at the Section of Pediatric Ophthalmology, Orthoptics, Low Vision & Neuroophthalmology, Department of Ophthalmology, Saarland University Homburg/Saar, GermanySearch for more papers by this authorO.V. Khlebnikova, O.V. Khlebnikova Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian FederationSearch for more papers by this authorN.A. Pozdeyeva, N.A. Pozdeyeva Department of Ambulant Surgery and Conservative Treatment, Cheboksary Branch of S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian FederationSearch for more papers by this authorG.M. Bayazutdinova, G.M. Bayazutdinova Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian FederationSearch for more papers by this authorS.I. Kutsev, S.I. Kutsev Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian Federation Department of Molecular and Cell Genetics, Pirogov Russian National Research Medical University, Moscow, Russian FederationSearch for more papers by this authorE.K. Ginter, E.K. Ginter Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian FederationSearch for more papers by this authorE.V. Semina, E.V. Semina Division of Developmental Biology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorA.V. Marakhonov, Corresponding Author A.V. Marakhonov marakhonov@generesearch.ru orcid.org/0000-0002-0972-5118 Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian Federation Laboratory of Functional Analysis of the Genome, Moscow Institute of Physics and Technology (State University), Dolgoprudny, Moscow Region, Russian Federation Correspondence Rena A. Zinchenko, Andrey V. Marakhonov, Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moskvorechie Street, 1, 115478 Moscow, Russian Federation. Email: renazinchenko@mail.ru, marakhonov@generesearch.ruSearch for more papers by this authorR.A. Zinchenko, Corresponding Author R.A. Zinchenko renazinchenko@mail.ru Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian Federation Department of Molecular and Cell Genetics, Pirogov Russian National Research Medical University, Moscow, Russian Federation Correspondence Rena A. Zinchenko, Andrey V. Marakhonov, Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moskvorechie Street, 1, 115478 Moscow, Russian Federation. Email: renazinchenko@mail.ru, marakhonov@generesearch.ruSearch for more papers by this author
PMID 28321846
Gene: PAX6
Variant NM_001368894.2:c.-128-2del
Disease: Ocular dysgenesis
InheritancePattern: AD
Disease PAX6-related ocular dysgenesis MONDO:0800183
Proband 26.03 and apparently de novo