Congenital scalp defects and vitreoretinal degeneration: Redefining the Knobloch syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference12 articles.
1. Spinal dysraphism: genetic relation to neural tube malformations.
2. Autosomal Recessive Vitreoretinopathy and Encephaloceles
3. Familial Exudative Vitreoretinopathy
4. The second report of Knobloch syndrome
5. (1963): “System of Ophthalmology. Vol III, Part 1. Embryology.” St. Louis, MO: CV Mosby Co., pp. 18-126.
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1. Knobloch Syndrome Type 1 with a Novel Pathogenic Variant in the COL18A1 Gene: Case Report and Review of the Literature;Journal of Pediatric Neurology;2024-05-29
2. Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings;Neurocase;2022-01-02
3. Knobloch syndrome in a patient from Chile;American Journal of Medical Genetics Part A;2020-07-22
4. Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism;Documenta Ophthalmologica;2017-01-31
5. Reconciling genotype with phenotype: Lessons learned on the Arabian Peninsula;Ophthalmic Genetics;2017-01-02
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