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MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome |
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| Authors: | Meral Gunay-Aygun Melissa A. Parisi Dan Doherty Maya Tuchman David E. Kleiner Marjan Huizing Baris Turkbey Peter Choyke Lisa Guay-Woodford Theo Heller Katarzyna Szymanska Ian Glass William A. Gahl |
| Affiliation: | a Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD b Intramural Program of the Office of Rare Diseases, Bethesda, MD c NEI, Bethesda, MD d University of Washington, Seattle e National Institutes of Health Clinical Center, Bethesda, MD f Molecular Imaging Program, National Cancer Institute, Bethesda, MD g Laboratory of Pathology, National Cancer Institute, Bethesda, MD h University of Alabama, Birmingham, AL i National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD j Leeds Institute of Molecular Medicine, Leeds, UK |
| Abstract: | |
| Keywords: | ARPKD, Autosomal recessive polycystic kidney disease CHF, Congenital hepatic fibrosis CNS, Central nervous system JSRD, Joubert syndrome and related disorders MKS, Meckel syndrome MTS, Molar tooth sign OMA, Oculomotor apraxia |
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