A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers-Reference-Cited by-同舟云学术

A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers

Published:2022-09-01 Issue:3 Volume:43 Page:807-815
ISSN:1573-2630
Container-title:International Ophthalmology
language:en
Short-container-title:Int Ophthalmol

Author:

Arce-González Rocío,Chacon-Camacho Oscar Francisco,Ordoñez-Labastida Vianey,Graue-Hernandez Enrique O.,Navas-Pérez Alejandro,Zenteno Juan Carlos^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology

Link

https://link.springer.com/content/pdf/10.1007/s10792-022-02481-5.pdf

Reference29 articles.

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2. Bertelsen TI (1968) Dysgenesis mesodermalis corneae et sclerae: rupture of both corneae in a patient with blue sclerae. Acta Ophthalmol 46:486–491

3. Burkitt Wright EMM, Spencer HL, Daly SB et al (2011) Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 88:767–777. https://doi.org/10.1016/j.ajhg.2011.05.007

4. Dhooge T, Van Damme T, Syx D et al (2021) More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Hum Mut 42:711–730. https://doi.org/10.1002/humu.24199

5. Cameron JA (1993) Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea 12:54–59. https://doi.org/10.1097/00003226-199301000-00009

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