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Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477 Free article.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322 Free article.