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

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.

World journal of gastroenterology - 28 Nov 2008

Alkhouri Naim, Kaplan Barbara, Kay Marsha, Shealy Amy, Crowe Carol, Bauhuber Susanne, Zenker Martin

Abstract excerpt

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency, and is characterized by hypoplastic nasal alae, mental retardation, sensorineural hearing loss, short stature, scalp defects, dental abnormalities and abnormal hair patterns. Growth hormone deficiency, hypopituitarism, and impaired glucagon secretion response to insulin-induced hypoglycemia...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exocrine Pancreatic Insufficiency

Share to Hearing Loss, Sensorineural

Share to Intellectual Disability

Share to Syndrome

Share to Tomography, X-Ray Computed

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 19058315
DOI: 10.3748/wjg.14.6863
PMCID: PMC2773884

Genes

UBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.PMID 19058315Read ↗

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.Semantic proximity Read ↗

Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency.Semantic proximity Read ↗

Mutations in the human UBR1 gene and the associated phenotypic spectrum.Semantic proximity Read ↗

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).Semantic proximity Read ↗

Oblique facial clefts in Johanson-Blizzard syndrome.Semantic proximity Read ↗

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.Semantic proximity Read ↗

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.Semantic proximity Read ↗

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.Semantic proximity Read ↗

Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.Semantic proximity Read ↗

Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.Semantic proximity Read ↗

DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetesSemantic proximity Read ↗

Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.Semantic proximity Read ↗

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