| Autor: |
J. Jedlickova, M. Vajter, T. Barta, G. Black, J. Mares, M. Fichtl, B. Kousal, L. Dudakova, P. Liskova |
| Rok vydání: |
2023 |
| Popis: |
Four members of a three-generation family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T inMIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change inMIR204. The chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, family members were shown to be affected by albinism resulting from biallelic pathogenicOCA2variants. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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