Joubert syndrome: a case report of neonatal presentation and early diagnosis

• Main Authors: Carla I. González-Gordillo (Author), Leslie E. Orozco-Soto (Author), Juan R. Osegueda-Mayen (Author), Alejandra Nava-Tapia (Author), Dario Martinez-Monreal (Author)
• Format: Book
• Published: Permanyer, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the ma...