Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years

Aims: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. The aim of this study was to review ZNF469 mutations associated with BCS type 1 to date and to describe an additional case of Czech/Polish background. Methods: Whole genome sequencing was undertaken to identify the molecular...

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Bibliographic Details
Main Authors: Pavlina Skalicka, Louise F. Porter, Kristyna Brejchova, Frantisek Malinka, Lubica Dudakova, Petra Liskova
Format: Artigo
Language:Inglês
Published: Palacký University Olomouc, Faculty of Medicine and Dentistry 2020-06-01
Series:Biomedical Papers
Subjects:
znf469
deafness
brittle cornea syndrome
blindness
corneal rupture
penetrating keratoplasty
Online Access:https://biomed.papers.upol.cz/artkey/bio-202002-0010_brittle-cornea-syndrome-disease-causing-mutations-in-znf469-and-two-novel-variants-identified-in-a-patient-fol.php
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