Article
Knobloch syndrome in a patient from Chile.
American journal of medical genetics. Part A - 1 Oct 2020
Nakousi-Capurro Nicole, Huserman Jonathan, Castillo Silvia, Herrera Luisa, Romero Pablo, Pizarro Felipe, Quezada Cristian, Cea Francisco
Abstract excerpt
Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in the COL18A1 gene, which codifies for collagen XVIII, present in retina and vascular endothelium. Since the first description of the disease by doctors Knobloch and Layer...
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