Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports-Reference-Cited by-同舟云学术

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Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports

Published:2017-11-25 Issue:1 Volume:17 Page:
ISSN:1471-2415
Container-title:BMC Ophthalmology
language:en
Short-container-title:BMC Ophthalmol

Author:

White Robert J.,Wang Yao,Tang Peter,Montezuma Sandra R.

Funder

Research to Prevent Blindness (US)

Minnesota Lions Eye Bank

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12886-017-0615-z.pdf

Reference13 articles.

1. Knobloch WH, Layer JM. Retinal detachment and encephalocele. J Pediatr Ophthalmol Strabismus. 1971;8(3):181–4.

2. Caglayan AO, Baranoski JF, Aktar F, et al. Brain malformations associated with Knobloch syndrome—review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatr Neurol. 2014;51(6):806–13.

3. Wenick AS, Barañano DE. Evaluation and management of pediatric rhegmatogenous retinal detachment. Saudi J Ophthalmol. 2012;26(3):255–63.

4. Suzuki OT, Sertie AL, Der Kaloustian VM, et al. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Am J Hum Genet. 2002;71(6):1320–9.

5. Seppinen L, Pihlajaniemi T. The multiple functions of collagen XVIII in development and disease. Matrix Biol. 2011;30(2):83–92.

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3. 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

4. Exploring Knobloch syndrome: A case series of two Indian families and a review of literature;Indian Journal of Ophthalmology - Case Reports;2024-04

5. The genetics and disease mechanisms of rhegmatogenous retinal detachment;Progress in Retinal and Eye Research;2023-11

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