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Joubert syndrome is not a cause of classical autism.
Takahashi TN, Farmer JE, Deidrick KK, Hsu BS, Miles JH, Maria BL. Takahashi TN, et al. Among authors: maria bl. Am J Med Genet A. 2005 Feb 1;132A(4):347-51. doi: 10.1002/ajmg.a.30500. Am J Med Genet A. 2005. PMID: 15633174
Defining future directions in spinal cord tumor research: proceedings from the National Institutes of Health workshop.
Claus EB, Abdel-Wahab M, Burger PC, Engelhard HH, Ellison DW, Gaiano N, Gutmann DH, Heck DA, Holland EC, Jallo GI, Kruchko C, Kun LE, Maria BL, Rumboldt Z, Seminara D, Spinella GM, Stophel L, Wechsler-Reya R, Wrensch M, Gilbertson RJ. Claus EB, et al. Among authors: maria bl. J Neurosurg Spine. 2010 Feb;12(2):117-21. doi: 10.3171/2009.7.SPINE09137. J Neurosurg Spine. 2010. PMID: 20121344 Free PMC article.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
127 results