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

Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology - 1 Jan 2004

Sgro M, Rossetti S, Barozzino T, Toi A, Langer J, Harris P C, Harvey E, Chitayat D

Abstract excerpt

Caroli's disease is a rare autosomal recessive condition characterized by cystic dilatation of the intrahepatic bile ducts and infantile polycystic kidney disease. We report a case with Caroli's disease detected prenatally at 33 weeks' gestation with fetal ultrasound findings of a cystic liver ma...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Testing
Share to Heterozygote
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pregnancy

Share to Pregnancy Outcome

Share to Receptors, Cell Surface

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 14971004
DOI: 10.1002/uog.943

Genes

PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-14971004-2026-09-04.2. 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

Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis.PMID 14971004Read ↗

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity Read ↗

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcomeSemantic proximity Read ↗

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.Semantic proximity Read ↗

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.Semantic proximity Read ↗

A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.Semantic proximity Read ↗

Clinical manifestations of autosomal recessive polycystic kidney diseaseSemantic proximity Read ↗

[Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].Semantic proximity Read ↗

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.Semantic proximity Read ↗

Neonatal polycystic kidney disease: a novel variant.Semantic proximity Read ↗

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.Semantic proximity Read ↗

Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation.Semantic proximity Read ↗

Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis.Semantic proximity Read ↗

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