Knobloch syndrome

Definition:

Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations in the COL18A1 gene were identified in KNO families.

References:

[1]. Olivier Menzel, et al. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat. 2004 Jan;23(1):77-84. [Content Brief]

[2]. Susana E Kliemann, et al. Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. Am J Med Genet A. 2003 May 15;119A(1):15-9. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.