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

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

<i>ZEB1</i> 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 phenoty...

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Bibliographic Details
Main Authors: Lubica Dudakova, Viktor Stranecky, Lenka Piherova, Tomas Palecek, Nikolas Pontikos, Stanislav Kmoch, Pavlina Skalicka, Manuela Vaneckova, Alice E. Davidson, Petra Liskova
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
<i>ZEB1</i>
cornea
penetrance
loss-of-function
Online Access:https://www.mdpi.com/2073-4425/12/5/677

Internet

https://www.mdpi.com/2073-4425/12/5/677

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