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Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
(Springer-Verlag; IPNA, 2006-01)
Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal ...