A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

Item
http://www.wikidata.org/entity/Q28298013
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypesAssessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.Genetics of anterior segment dysgenesis disorders.Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos.Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report.A newly recognized autosomal recessive syndrome affecting neurologic function and vision
P2860

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

Item
http://www.wikidata.org/entity/Q28298013
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
@ast
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
@en
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
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type
label
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
@ast
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
@en
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
@nl
prefLabel
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
@ast
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
@en
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
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P698
P921
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P1433
P1476
A novel nonsense B3GALTL mutat ...... lformations and Peters anomaly
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P2093
P2860
P304
P31
P356
10.3109/13816810.2010.512355
P407
P433
P478
P577
P698
P921