ReviewJournal of medical genetics2003
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.
Review in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 113 citations in OpenAlex.
- Recapitulating Liver Embryology-Lessons to Be Learned for Liver Diseases.Journal of developmental biology · 2025Review
- Autosomal Dominant Polycystic Kidney Disease-Related Multifocal Renal Cell Carcinoma: A Narrative Iconographic Review.International journal of molecular sciences · 2025Review
- Compound heterozygousHeliyon · 2024Article
- Stillbirth Investigations: An Iconographic and Concise Diagnostic Workup in Perinatal Pathology.Journal of laboratory physicians · 2023Review
- Article
- Imaging of fibropolycystic liver disease.Abdominal radiology (New York) · 2022Review
- Biliary Atresia: A Complex Hepatobiliary Disease with Variable Gene Involvement, Diagnostic Procedures, and Prognosis.Diagnostics (Basel, Switzerland) · 2022Review
- Vitamin D supplementation for autoimmune hepatitis: A need for further investigation.World journal of hepatology · 2022Article
- Congenital hepatic fibrosis and its mimics: a clinicopathologic study of 19 cases at a single institution.Diagnostic pathology · 2021Article
- An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Scientific reports · 2017Article
- A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome-Review of the Literature.Frontiers in pediatrics · 2017Article
- Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.Journal of medical genetics · 2016Article
- Hepatorenal fibrocystic diseases in children.Pediatric nephrology (Berlin, Germany) · 2016Article
- Article
- An approach to cystic kidney diseases: the clinician's view.Nature reviews. Nephrology · 2014Review
- BBS4 directly affects proliferation and differentiation of adipocytes.Cellular and molecular life sciences : CMLS · 2014Article
- Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Human genetics · 2013Article
- Proceedings of the 2013 Joint JSTP/NTP Satellite Symposium.Journal of toxicologic pathology · 2013Article
- Ciliopathies: an expanding disease spectrum.Pediatric nephrology (Berlin, Germany) · 2011Review
- Diagnosis and management of childhood polycystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. The changes include the proliferation and dilatation of epithelial ducts in these tissues with abnormal deposition of extracellular matrix. In this review, we examine the clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS), and Jeune asphyxiating thoracic dystrophy (JATD). Extrahepatic manifestations include mostly bone and central nervous system abnormalities, dysmorphic features, and developmental delay. Previously, it has been suggested that ARPKD, JATD, and Ellis-van Creveld syndrome (EvC) may arise from defects in differentiation in a common developmental pathway. We review recent molecular advances in the recessive HRFC syndromes and discuss this hypothesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.