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. Among authors: gleeson jg.
Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749.
Ann Neurol. 2006.
PMID: 16453322
Free article.