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

BACKGROUND: Congenital aniridia is a severe autosomal dominant binocular developmental disorder, the primary feature of which is congenital absence or hypoplasia of the iris. PAX6 is the main disease‐causing gene of congenital aniridia; inheritance is autosomal dominant. But the current mutations do...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Bai, Zhouxian, Kong, Xiangdong
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305634/
https://ncbi.nlm.nih.gov/pubmed/30334364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.481
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