Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains

Author:

Cross Esther,Duncan-Flavell Philippa J.,Howarth Rachel J.,Crooks Richard O.,Thomas N. Simon,Bunyan David J.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference45 articles.

1. Genetic analysis of ‘PAX6-negative’ individuals with aniridia or Gillespie syndrome;Ansari;PLoS One,2016

2. PAX6 missense mutation in isolated foveal hypoplasia;Azuma;Nat. Genet.,1996

3. Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies;Azuma;Invest. Ophthalmol. Vis. Sci.,1998

4. Missense mutations in the PAX6 gene in aniridia;Azuma;Invest. Ophthalmol. Vis. Sci.,1998

5. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations;Azuma;Am. J. Hum. Genet.,2003

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