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: understanding the genotype-phenotype relationship and its potential therapeutic impact.

Expert review of gastroenterology & hepatology - 1 Jan 2000

Halma Jennifer, Lin Henry C

Abstract excerpt

INTRODUCTION: Alagille syndrome (ALGS) is an autosomal dominant, multisystem genetic disorder with wide phenotypic variability caused by mutations in the Notch signaling pathway, specifically from mutations in either the Jagged1 (JAG1) or NOTCH2 gene. The range of clinical features in ALGS can involve various organ systems including the liver, heart, eyes, skeleton, kidney, and vasculature. Despite the genetic...

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 Congenital Ear and Nasal Anomalies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gallbladder and Bile Duct Disorders

Share to Genotype

Share to Mutation

Share to Pediatric Hepatobiliary Diseases and Treatments

Share to Phenotype

Source

Identifiers

PMID: 37668532
DOI: 10.1080/17474124.2023.2255518

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alagille syndrome: understanding the genotype-phenotype relationship and its potential therapeutic impact.PMID 37668532Read ↗

Alagille Syndrome: Unraveling the Complexities of Genotype–Phenotype Relationships and Exploring Avenues for Improved Diagnosis and TreatmentSemantic proximity Read ↗

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

Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.Semantic proximity Read ↗

Clinical and genetic analysis in Chinese children with Alagille syndromeSemantic proximity Read ↗

Clinical and Molecular Genetic Study of an Alagille Syndrome Type 1 Case.Semantic proximity Read ↗

[Clinical features and gene mutation analysis of patients with Alagille syndrome].Semantic proximity Read ↗

Medical management of Alagille syndrome.Semantic proximity Read ↗

Alagille syndrome: pathogenesis, diagnosis and management.Semantic proximity Read ↗

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

Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.Semantic proximity Read ↗

Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.Semantic proximity Read ↗

Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.Semantic proximity Read ↗

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