Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.
about
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomalyFunctional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.Autosomal dominant cataracts and Peters anomaly in a large Australian family.
P2860
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.
description
1991 nî lūn-bûn
@nan
1991 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Short stature, brachydactyly, ...... tosomal recessive inheritance.
@ast
Short stature, brachydactyly, ...... tosomal recessive inheritance.
@en
type
label
Short stature, brachydactyly, ...... tosomal recessive inheritance.
@ast
Short stature, brachydactyly, ...... tosomal recessive inheritance.
@en
prefLabel
Short stature, brachydactyly, ...... tosomal recessive inheritance.
@ast
Short stature, brachydactyly, ...... tosomal recessive inheritance.
@en
P2093
P2860
P356
P1476
Short stature, brachydactyly, ...... tosomal recessive inheritance.
@en
P2093
Barbosa Neto J
Llerena Júnior J
Middleton S
de Almeida JC
P2860
P304
P356
10.1136/JMG.28.4.277
P407
P577
1991-04-01T00:00:00Z