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Supplement Schigt et al

Autor: Schigt, Heidi, Bald, Martin, van der Eerden, Bram C.J., Gal, Lars, Ilenwabor, Barnabas, Konrad, Martin, Levine, Michael A., Li, Dong, Mache, Christoph, Mackin, Sharon, Perry, Colin, Rios, Francisco J., Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M., Verkerk, Annemieke J.M.H., Carola Zillikens, M., M. Touyz, Rhian, J. Hoorn, Ewout, Hoenderop, Joost G.J., De baaij, Jeroen

Context - Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::806b09138eff6f567c356bb21fdbe8c9

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Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Autor: Geoffroy, Véronique, Stoetzel, Corinne, Scheidecker, Sophie, Schaefer, Elise, Perrault, Isabelle, Bär, Séverine, Kröll, Ariane, Delbarre, Marion, Antin, Manuela, Leuvrey, Anne-Sophie, Henry, Charline, Blanché, Hélène, Decker, Eva, Kloth, Katja, Klaus, Günter, Mache, Christoph, Martin-Coignard, Dominique, McGinn, Steven, Boland, Anne, Deleuze, Jean-François, Friant, Sylvie, Saunier, Sophie, Rozet, Jean-Michel, Bergmann, Carsten, Dollfus, Hélène, Muller, Jean

Publikováno v: Human Mutation
Human Mutation, 2018, 39 (7), pp.983-992. ⟨10.1002/humu.23539⟩
Human Mutation, Wiley, 2018, 39 (7), pp.983-992. ⟨10.1002/humu.23539⟩

International audience; Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to mor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::120bb00c8d8d9b12422bd1ccf5fe3914
https://pubmed.ncbi.nlm.nih.gov/29688594

Future expectations—what paediatric nephrologists and urologists await from paediatric uroradiology

Autor: Ring, Ekkehard ^*, Mache, Christoph J, Vilits, Peter

Publikováno v: In European Journal of Radiology 2002 43(2):94-99