MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome

OBJECTIVES: To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS). STUDY DESIGN: Biochemical evaluations, magnetic resonance and ultrasound imaging, electroretinogram...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Gunay-Aygun, Meral, Parisi, Melissa A., Doherty, Dan, Tuchman, Maya, Tsilou, Ekaterini, Kleiner, David E., Huizing, Marjan, Turkbey, Baris, Choyke, Peter, Guay-Woodford, Lisa, Heller, Theo, Szymanska, Katarzyna, Johnson, Colin A., Glass, Ian, Gahl, William A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2009
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2925444/
https://ncbi.nlm.nih.gov/pubmed/19540516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2009.03.045
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