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

Alagille syndrome with a previously undescribed mutation.

Indian pediatrics - 1 Apr 2014

Bhatia Vidyut, Kumar Pawan

Abstract excerpt

BACKGROUND: Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies. CASE CHARACTERISTICS: An 8-year old child with persisting jaundice, severe itching and failure to thrive. OBSERVATION: Diagnosis of Alagille syndrome was made on the basis of clinical features, typical facies and liver biopsy showing bile duct...

Read the complete abstract on PubMed

Topics

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

Share to Alagille Syndrome
Share to Calcium-Binding Proteins
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intercellular Signaling Peptides and Proteins

Share to Membrane Proteins

Share to Mutation

Share to Serrate-Jagged Proteins

Source

Identifiers

PMID: 24825276

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

Alagille syndrome with a previously undescribed mutation.PMID 24825276Read ↗

Alagille syndrome and the Jagged1 gene.Semantic proximity Read ↗

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.Semantic proximity Read ↗

Alagille syndrome.Semantic proximity Read ↗

Alagille syndrome: an overview.Semantic proximity Read ↗

Alagille syndrome caused by NOTCH2 mutation presented atypical pathological changes.Semantic proximity Read ↗

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.Semantic proximity Read ↗

Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management.Semantic proximity Read ↗

[Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].Semantic proximity Read ↗

Alagille Syndrome: Diagnostic Challenges and Advances in ManagementSemantic proximity Read ↗

Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities.Semantic proximity Read ↗

[Molecular and clinical characteristics of a family with Alagille syndrome].Semantic proximity Read ↗

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.Semantic proximity Read ↗

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