Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities
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Pax6 3' deletion results in aniridia, autism and mental retardationA novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomalyAbsence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardationA novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation.Mutation spectrum of PAX6 in Chinese patients with aniridia.Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.PAX6 analysis of two sporadic patients from southern China with classic aniridia.Absence of NR2E1 mutations in patients with aniridia.Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.PAX6 aniridia and interhemispheric brain anomalies.Eye anomalies and neurological manifestations in patients with PAX6 mutations.A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.Insight into the molecular genetics of myopia.Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family.Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia
P2860
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P2860
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Three new PAX6 mutations inclu ...... urodevelopmental abnormalities
@en
type
label
Three new PAX6 mutations inclu ...... urodevelopmental abnormalities
@en
prefLabel
Three new PAX6 mutations inclu ...... urodevelopmental abnormalities
@en
P2093
P2860
P1433
P1476
Three new PAX6 mutations inclu ...... urodevelopmental abnormalities
@en
P2093
Alfred Penfornis
Anouk Dansault
Carolina Jaliffa
Catherine Chopin
Claire Schwartz
Cécile Marsac
Daniel Ricquier
Daniel Schorderet
Francis Munier
Françise Catin
P2860
P304
P577
2007-04-02T00:00:00Z