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Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.

Folia biologica - 1 Jan 2020

Moravikova J, Kozmik Z, Hlavata L, Putzova M, Skalicka P, Michaelides M, Malinka F, Dudakova L, Liskova P

Abstract excerpt

The aim of this study was to report PAX6 disease-causing variants in six Czech families, to describe the associated phenotypes, and to perform functional assessment of the splice site variants. Detailed ophthalmic examination was performed. The PAX6 coding region was directly sequenced in three probands. Two probands were analysed by exome sequencing and one by genome sequencing. The effect of two variants on...

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Aniridia
Child
Czech Republic
Eye Proteins
PAX6 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33745259
DOI: 10.14712/fb2020066040123

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