DOI:
10.1055/s-00029030
Journal of Pediatric Neurology
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References
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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