PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
about
PAX6 gene variations associated with aniridia in south IndiaPax6 3' deletion results in aniridia, autism and mental retardationThe protomap is propagated to cortical plate neurons through an Eomes-dependent intermediate mapId2 is required for specification of dopaminergic neurons during adult olfactory neurogenesisEvaluation of Pax6 mutant rat as a model for autism.Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridiaPax6 Binds to Promoter Sequence Elements Associated with Immunological Surveillance and Energy Homeostasis in Brain of Aging MiceMutations of the PAX6 gene detected in patients with a variety of optic-nerve malformationsA novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation.Molecular genetics of familial nystagmus complicated with cataract and iris anomalies.PAX6 and congenital eye malformations.Regional Volume Decreases in the Brain of Pax6 Heterozygous Mutant Rats: MRI Deformation-Based MorphometryAniridia.Eye anomalies and neurological manifestations in patients with PAX6 mutations.Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor.[Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care ("aniridia guide")].PAX6, paired domain influences sequence recognition by the homeodomain.Heterozygous PAX6 mutation, adult brain structure and fronto-striato-thalamic function in a human family.Aniridia associated with ptosis in three generations of the same family.
P2860
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P2860
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh
2001年學術文章
@zh-hant
name
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
@en
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
@nl
type
label
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
@en
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
@nl
prefLabel
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
@en
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
@nl
P2093
P2860
P50
P1433
P1476
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
@en
P2093
A M Bardelli
A Malandrini
K Williamson
M Bruttini
S Gambelli
P2860
P304
P356
10.1034/J.1399-0004.2001.600210.X
P577
2001-08-01T00:00:00Z