PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

Author:

Gunay-Aygun Meral,Tuchman Maya,Font-Montgomery Esperanza,Lukose Linda,Edwards Hailey,Garcia Angelica,Ausavarat Surasawadee,Ziegler Shira G.,Piwnica-Worms Katie,Bryant Joy,Bernardini Isa,Fischer Roxanne,Huizing Marjan,Guay-Woodford Lisa,Gahl William A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference33 articles.

1. Autosomal recessive polycystic kidney disease: the clinical experience in North America;Guay-Woodford;Pediatrics,2003

2. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender;Zerres;Arbeitsgemeinschaft fur Padiatrische Nephrologie Acta Paediatr.,1996

3. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference;Gunay-Aygun;J. Pediatr.,2006

4. K.M. Dell, E.D. Avner, Autosomal recessive polycystic kidney disease, In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2008. Available from: , 2008.

5. M. Gunay-Aygun, W.A. Gahl, T. Heller, Congenital hepatic fibrosis overview In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2008. Available from: , 2008.

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