An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)

Amorini, M; Iapadre, G; Mancuso, A; Ceravolo, I; Farello, G; Scardamaglia, A; Gramaglia, S; Ceravolo, A; Salpietro, A; Cuppari, C

Cuppari, C (通讯作者),Univ Messina, Dept Human Pathol Adulthood & Childhood G Barresi, Unit Emergency Pediat, G Martino Policlin, Via Consolare Valeria, I-98124 Messina, Italy.

JOURNAL OF PEDIATRIC NEUROLOGY, 2023; 21 (1): 23

Abstract

Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar brain malformation, hypotonia, ataxia, developmental delay, ab......

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