Genotype-phenotype correlation of PAX6 gene mutations in aniridia
about
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia.Congenital Aniridia with Ectopia LentisPanel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Novel PAX6 mutation reported in an aniridia patient.Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation.Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation.Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
P2860
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P2860
Genotype-phenotype correlation of PAX6 gene mutations in aniridia
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Genotype-phenotype correlation of PAX6 gene mutations in aniridia
@ast
Genotype-phenotype correlation of PAX6 gene mutations in aniridia
@en
type
label
Genotype-phenotype correlation of PAX6 gene mutations in aniridia
@ast
Genotype-phenotype correlation of PAX6 gene mutations in aniridia
@en
prefLabel
Genotype-phenotype correlation of PAX6 gene mutations in aniridia
@ast
Genotype-phenotype correlation of PAX6 gene mutations in aniridia
@en
P2093
P2860
P356
P1476
Genotype-phenotype correlation of PAX6 gene mutations in aniridia
@en
P2093
Katsuhiro Hosono
Maki Fukami
Noriyuki Azuma
Sachiko Nishina
Tadashi Yokoi
P2860
P2888
P356
10.1038/HGV.2015.52
P577
2016-02-11T00:00:00Z