Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

B. Utsch,J. A. Sayer,M. Attanasio,H. C. Hennies,M. Pohl, H. Omran, R. Roos, J. Kühr, J. Nauta, R. Peirera,E. Otto,F. Hildebrandt

Neuropediatrics(2005)

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