Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

• Main Authors: Marcello Niceta (Author), Maria Lisa Dentici (Author), Andrea Ciolfi (Author), Romana Marini (Author), Sabina Barresi (Author), Francesca Romana Lepri (Author), Antonio Novelli (Author), Enrico Bertini (Author), Marco Cappa (Author), Maria Cristina Digilio (Author), Bruno Dallapiccola (Author), Marco Tartaglia (Author)
• Format: Book
• Published: BMC, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive impairment and, the molar tooth sign is...