about
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesisRieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome.Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsChromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.Chromosome abnormalities and the genetics of congenital corneal opacification.Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.Neural crest derivatives in ocular development: discerning the eye of the stormClosing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literatureAxenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
P2860
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P2860
description
1992 nî lūn-bûn
@nan
1992 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Evidence that Rieger syndrome maps to 4q25 or 4q27.
@ast
Evidence that Rieger syndrome maps to 4q25 or 4q27.
@en
type
label
Evidence that Rieger syndrome maps to 4q25 or 4q27.
@ast
Evidence that Rieger syndrome maps to 4q25 or 4q27.
@en
prefLabel
Evidence that Rieger syndrome maps to 4q25 or 4q27.
@ast
Evidence that Rieger syndrome maps to 4q25 or 4q27.
@en
P2093
P2860
P356
P1476
Evidence that Rieger syndrome maps to 4q25 or 4q27.
@en
P2093
P2860
P304
P356
10.1136/JMG.29.4.256
P407
P577
1992-04-01T00:00:00Z