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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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Detalhes bibliográficos
Publicado no:J Ophthalmol
Main Authors: Dudakova, Lubica, Skalicka, Pavlina, Ulmanová, Olga, Hlozanek, Martin, Stranecky, Viktor, Malinka, Frantisek, Vincent, Andrea L., Liskova, Petra
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7212339/
https://ncbi.nlm.nih.gov/pubmed/32454992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/6807809
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