Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism

Author:

Bai Zhouxian1ORCID,Kong Xiangdong1ORCID

Affiliation:

1. Genetic and Prenatal Diagnosis Center; The First Affiliated Hospital of Zhengzhou University; Zhengzhou China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference17 articles.

1. A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease;Ainsworth;American Journal of Human Genetics,1992

2. Pax6 3’ deletion results in aniridia, autism and mental retardation;Davis;Human Genetics,2008

3. Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young;Dusatkova;European Journal of Medical Genetics,2015

4. Eyes: Variety, development and evolution;Fernald;Brain, Behavior and Evolution,2004

5. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects;Glaser;Nature Genetics,1994

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