Rare variants in <i>PKHD1</i> associated with Caroli syndrome: Two case reports-Reference-Cited by-同舟云学术

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Published:2022-06-17 Issue:8 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Giacobbe Carola¹^ORCID,Di Dato Fabiola²,Palma Daniela¹,Amitrano Michele³,Iorio Raffaele²,Fortunato Giuliana¹^ORCID

Affiliation:

1. Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II and CEINGE S.C.a r.l. Advanced Biotechnology Naples Italy

2. Department of Translational Medical Science, Section of Pediatrics University of Naples Federico II Naples Italy

3. Department of Advanced Biomedical Science University of Naples Federico II Naples Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1998

Reference31 articles.

1. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

2. Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

3. Caroli's Disease as a Cause of Chronic Epigastric Abdominal Pain: Two Case Reports and a Brief Review of the Literature

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Heritable Chronic Cholestatic Liver Diseases: A Review;Journal of Clinical and Translational Hepatology;2024-06-17

2. Caroli's Syndrome: A Case Report and Literature Review;Cureus;2023-12-20

3. A Unique Case of Caroli Disease in Kenya\'s Medical Landscape;American Journal of Case Reports;2023-12-13

4. Caroli syndrome associated with atrial septal defect and polydactyly: a case report;Journal of Medical Case Reports;2023-05-23

5. Childhood-onset Caroli’s disease as a cause of recurrent fever: A case report;Frontiers in Pediatrics;2022-08-04