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Knobloch syndrome 2
- ... Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. Am J Med Genet. 1993 Apr 15;46(2):203-8. doi: 10.1002/ajmg.1320460221. Citation ...
- ... COL18A1 gene have been identified in people with Knobloch syndrome, a condition characterized by severe vision problems and ... protein likely causes the signs and symptoms of Knobloch syndrome. It is unclear whether endostatin is involved in ...
- ... pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen syndrome. Because common myopia is a ... syndrome, it follows the inheritance pattern of that syndrome, most commonly autosomal dominant, autosomal recessive, or X-linked. ... ClinicalTrials.gov MYOPIA 2, AUTOSOMAL DOMINANT; MYP2 MYOPIA 1, X-LINKED; MYP1 ...