Clinical and molecular genetic features of ARC syndrome-Reference-Cited by-同舟云学术

Clinical and molecular genetic features of ARC syndrome

Published:2006-08-01 Issue:3 Volume:120 Page:396-409
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Gissen Paul,Tee Louise,Johnson Colin A.,Genin Emmanuelle,Caliebe Almuth,Chitayat David,Clericuzio Carol,Denecke Jonas,Di Rocco Maja,Fischler Björn,FitzPatrick David,García-Cazorla Angeles,Guyot Delphine,Jacquemont Sebastien,Koletzko Sibylle,Leheup Bruno,Mandel Hanna,Sanseverino Maria Teresa Vieira,Houwen Roderick H. J.,McKiernan Patrick J.,Kelly Deirdre A.,Maher Eamonn R.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-006-0232-z.pdf

Reference18 articles.

1. Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM (2000) Arthrogryposis, renal dysfunction and cholestasis syndrome. Saudi Med J 21:297–299

2. Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. (2006) VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. J Pediatr 148:269–71

3. Coleman RA, Van Hove JLK, Morris R, Rhoads JM, Summar ML (1997) Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI). Am J Med Genet 72:335–338

4. Denecke J, Zimmer KP, Kleta R, Koch HG, Rabe H, August C, Harms E (2000) Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature. Klin Padiatr 212:77–80

5. Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C (1995) Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. Eur J Paediatr 154:835–839

Cited by 96 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. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024

2. Renal Fanconi Syndromes and Other Proximal Tubular Disorders;Pediatric Kidney Disease;2023

3. Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report;Frontiers in Pediatrics;2022-12-07

4. Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders;Cells;2022-11-21

5. Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report;World Journal of Clinical Cases;2022-10-26