Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
Background. The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family. Methods. We have performed ocular examination and review of medical records in two individuals d...
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Main Authors: | Lubica Dudakova, Pavlina Skalicka, Olga Ulmanová, Martin Hlozanek, Viktor Stranecky, Frantisek Malinka, Andrea L. Vincent, Petra Liskova |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-01-01
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Series: | Journal of Ophthalmology |
Online Access: | http://dx.doi.org/10.1155/2020/6807809 |
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