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A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndromeA second locus for Rieger syndrome maps to chromosome 13q14Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndromeHeterogeneity in dominant anterior segment malformations.Transdifferentiation from cornea to lens in Xenopus laevis depends on BMP signalling and involves upregulation of Wnt signallingPITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3.A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndromeNovel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma.The 6p25 deletion syndrome: An update on a rare neurocristopathy.Primary congenital and developmental glaucomas.Transgenic models for eye malformations.Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.Developmental glaucoma in oculocutaneous albinism.The Rieger syndromeA novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.Dysmyelination of the cerebral white matter with microdeletion at 6p25.Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.
P2860
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P2860
description
1978 nî lūn-bûn
@nan
1978 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1978 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1978年の論文
@ja
1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
name
The Axenfeld syndrome and the Rieger syndrome
@ast
The Axenfeld syndrome and the Rieger syndrome
@en
The Axenfeld syndrome and the Rieger syndrome
@nl
type
label
The Axenfeld syndrome and the Rieger syndrome
@ast
The Axenfeld syndrome and the Rieger syndrome
@en
The Axenfeld syndrome and the Rieger syndrome
@nl
prefLabel
The Axenfeld syndrome and the Rieger syndrome
@ast
The Axenfeld syndrome and the Rieger syndrome
@en
The Axenfeld syndrome and the Rieger syndrome
@nl
P2860
P3181
P356
P1476
The Axenfeld syndrome and the Rieger syndrome
@en
P2093
P2860
P3181
P356
10.1136/JMG.15.1.30
P407
P577
1978-02-01T00:00:00Z