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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Detalles Bibliográficos
Autores principales: Dudakova, Lubica, Skalicka, Pavlina, Ulmanová, Olga, Hlozanek, Martin, Stranecky, Viktor, Malinka, Frantisek, Vincent, Andrea L., Liskova, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212339/
https://www.ncbi.nlm.nih.gov/pubmed/32454992
http://dx.doi.org/10.1155/2020/6807809

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212339/
https://www.ncbi.nlm.nih.gov/pubmed/32454992
http://dx.doi.org/10.1155/2020/6807809

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