Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation-Reference-Cited by-同舟云学术

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation

Published:2011-08-16 Issue:7 Volume:172 Page:877-881
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Calinescu-Tuleasca Ana-Maria,Bottani Armand,Rougemont Anne-Laure,Birraux Jacques,Gubler Marie-Claire,Le Coultre Claude,Majno Pietro,Mentha Gilles,Girardin Eric,Belli Dominique,Wildhaber Barbara E.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-011-1552-0.pdf

Reference27 articles.

1. Aylsworth AS (2001) Clinical aspects of defects in the determination of laterality. Am J Med Genet 101(4):345–355. doi: 10.1002

2. Baker K, Beales PL (2009) Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet 151C(4):281–295. doi: 10.1002

3. Bergman C (2011) Educational paper. The ciliopathies. Eur J Pediatr (in press)

4. Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T, Walz G, Benzing T, Zerres K, Omran H (2008) Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 82(4):959–970. doi: 10.1016/S0002-9297(08)00209-7

5. Bockhorn M, Malago M, Lang H, Nadalin S, Paul A, Saner F, Frilling A, Broelsch CE (2006) The role of surgery in Caroli's disease. J Am Coll Surg 202(6):928–932. doi: 10.1016/S1072-7515(06)00142-6

Cited by 9 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. Caroli syndrome associated with atrial septal defect and polydactyly: a case report;Journal of Medical Case Reports;2023-05-23

2. Pathogenesis of Choledochal Cyst: Insights from Genomics and Transcriptomics;Genes;2022-06-08

3. Biliary Atresia and Choledochal Malformations;Textbook of Pediatric Gastroenterology, Hepatology and Nutrition;2021-11-25

4. Loss of Anks6 leads to YAP deficiency and liver abnormalities;Human Molecular Genetics;2020-09-04

5. Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis;Clinica Chimica Acta;2020-07