A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation-Reference-Cited by-同舟云学术

A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation

Published:2019-07 Issue: Volume:705 Page:177-180
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Lee Byeonghyeon,Choi Deok-Gyun,Chun Bo Young,Oh Eun Hye,Lee Yun-Jeong,Kim Un-Kyung,Park Jin-Sung

Funder

National Research Foundation of Korea

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference12 articles.

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2. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities;Dansault;Mol. Vis.,2007

3. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects;Glaser;Nat. Genet.,1994

4. Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family;Goolam;Mol. Vis.,2018

5. PAX6 in sensory development;van Heyningen;Hum. Mol. Genet.,2002

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3. Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement;Investigative Opthalmology & Visual Science;2021-08-20

4. An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18);Scientific Reports;2020-02-24

5. The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye;Genes;2019-12-17