Multiple 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.
about
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsPotential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2Chromosome abnormalities and the genetics of congenital corneal opacification.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
P2860
Multiple 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.
description
1997 nî lūn-bûn
@nan
1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Multiple congenital anomalies ...... using the Rieger malformation.
@ast
Multiple congenital anomalies ...... using the Rieger malformation.
@en
type
label
Multiple congenital anomalies ...... using the Rieger malformation.
@ast
Multiple congenital anomalies ...... using the Rieger malformation.
@en
prefLabel
Multiple congenital anomalies ...... using the Rieger malformation.
@ast
Multiple congenital anomalies ...... using the Rieger malformation.
@en
P2093
P2860
P356
P1476
Multiple congenital anomalies ...... using the Rieger malformation.
@en
P2093
P2860
P304
P356
10.1136/JMG.34.12.1012
P407
P577
1997-12-01T00:00:00Z