Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles

ZEB1 loss-of-function (LoF) alleles are known to cause a rare autosomal dominant disorder—posterior polymorphous corneal dystrophy type 3 (PPCD3). To date, 50 pathogenic LoF variants have been identified as disease-causing and familial studies have indicated that the PPCD3 phenotype is penetrant in...

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Detalles Bibliográficos
Autores principales: Dudakova, Lubica, Stranecky, Viktor, Piherova, Lenka, Palecek, Tomas, Pontikos, Nikolas, Kmoch, Stanislav, Skalicka, Pavlina, Vaneckova, Manuela, Davidson, Alice E., Liskova, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146820/
https://www.ncbi.nlm.nih.gov/pubmed/33946386
http://dx.doi.org/10.3390/genes12050677

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146820/
https://www.ncbi.nlm.nih.gov/pubmed/33946386
http://dx.doi.org/10.3390/genes12050677

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