DOI: 10.1055/s-00029030

Journal of Pediatric Neurology

Referenz

Brancati F, Travaglini L, Zablocka D. et al; International JSRD Study Group.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Clin Genet 2008;
74 (02) 164-170

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