Article
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.
BMC pediatrics - 12 Mar 2020
Niceta Marcello, Dentici Maria Lisa, Ciolfi Andrea, Marini Romana, Barresi Sabina, Lepri Francesca Romana, Novelli Antonio, Bertini Enrico, Cappa Marco, Digilio Maria Cristina, Dallapiccola Bruno, Tartaglia Marco
Abstract excerpt
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 the p...
Topics
- Abnormalities, Multiple
- Animals
- Cerebellum
- Coloboma
- Eye Abnormalities
- Growth Hormone
- Humans
- Kidney Diseases, Cystic
- Kinesins
- Magnetic Resonance Imaging