Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Clinical genetics - 1 Aug 2014

Weh E, Reis L M, Tyler R C, Bick D, Rhead W J, Wallace S, McGregor T L, Dills S K, Chao M-C, Murray J C, Semina E V

Abstract excerpt

Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities. In this report, we describe screening of 64 patients affected wit...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cleft Lip
Share to Cohort Studies
Share to Cornea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Galactosyltransferases

Share to Genetic Association Studies

Share to Glucosyltransferases

Share to Growth Disorders

Share to Limb Deformities, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 23889335
DOI: 10.1111/cge.12241
PMCID: PMC4103962

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23889335-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.PMID 23889335Read ↗

Mutation analysis of B3GALTL in Peters Plus syndrome.Semantic proximity Read ↗

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.Semantic proximity Read ↗

Prenatal Diagnosis of Peters-Plus Syndrome: A Case ReportSemantic proximity Read ↗

Peters plus syndrome.Semantic proximity Read ↗

<i>In Silico</i> Analysis of <i>B3GALTL</i> Gene Reveling 13 Novel Mutations Associated with Peters’-plus syndromeSemantic proximity Read ↗

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.Semantic proximity Read ↗

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.Semantic proximity Read ↗

Identification of a New Genetic Mutation Associated With Peters Anomaly.Semantic proximity Read ↗

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.Semantic proximity Read ↗

Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.Semantic proximity Read ↗

Novel <b><i>VANGL1</i></b> Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube DefectsSemantic proximity Read ↗

Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.