Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2

Keyphrases

• Novel Types 100%
• 17q11.2 100%
• Knobloch Syndrome 100%
• Potassium Nitrate 100%
• Autosomal Recessive 66%
• COL18A1 66%
• Clinical Presentation 33%
• Microsatellite Markers 33%
• Germline mutation 33%
• Mutation Analysis 33%
• Kindred 33%
• Fine Mapping 33%
• LOD Score 33%
• Consanguineous Family 33%
• Mode of Inheritance 33%
• Disease-causing mutations 33%
• Genome-wide Linkage Study 33%
• Occipital Encephalocele 33%
• Myopia 33%
• High Myopia 33%
• Ocular Abnormalities 33%
• UNC119 33%
• Retinal Detachment 33%
• Scalp Defect 33%
• Chorioretinal Degeneration 33%

Medicine and Dentistry

• Gene Linkage 100%
• Diseases 100%
• Eye Disease 33%
• Autosomal Recessive Inheritance 33%
• Microsatellite Marker 33%
• Germline Mutation 33%
• Scalp 33%
• Autosomal Recessive Disorder 33%
• Encephalocele 33%
• Vitreoretinal Degeneration 33%
• High Myopia 33%
• Retinal Detachment 33%

Biochemistry, Genetics and Molecular Biology

• Gene Linkage 100%
• Candidate Gene 33%
• Microsatellite Marker 33%
• Germline Mutation 33%
• Autosomal Recessive Inheritance 33%
• Autosomal Recessive Disorder 33%