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Quoted phrase not found in phrase index: "Knobloch syndrome 2"
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Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Antonarakis SE, et al. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784
Knobloch syndrome is an autosomal recessive phenotype mainly characterized by retinal detachment and encephalocele caused by biallelic pathogenic variants in the COL18A1 gene. However, there are patients clinically diagnosed as Knobloch syndrome with u …
Knobloch syndrome is an autosomal recessive phenotype mainly characterized by retinal detachment and encephalocele caused by b …
Three cases of molecularly confirmed Knobloch syndrome.
Balikova I, Sanak NS, Fanny D, Smits G, Soblet J, de Baere E, Cordonnier M. Balikova I, et al. Ophthalmic Genet. 2020 Feb;41(1):83-87. doi: 10.1080/13816810.2020.1737948. Epub 2020 Mar 17. Ophthalmic Genet. 2020. PMID: 32178553
Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the COL18A1 gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients wit …
Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the COL18A1 gene. …
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.
Khan AO, Ghazi NG. Khan AO, et al. Ophthalmic Genet. 2018 Jun;39(3):321-324. doi: 10.1080/13816810.2018.1430245. Epub 2018 Feb 1. Ophthalmic Genet. 2018. PMID: 29388841
RESULTS: All five children had high myopia (spherical equivalent from -15 to -22). One had an ophthalmic phenotypic pathognomonic for Knobloch syndrome, and genetic testing confirmed a homozygous novel COL18A1 mutation (NM_130455.3: c.2978_2987del; p.Pro993Leufs*35) …
RESULTS: All five children had high myopia (spherical equivalent from -15 to -22). One had an ophthalmic phenotypic pathognomonic for Kno …
Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome.
Al-Beshri AS, Kozak I, Craven ER. Al-Beshri AS, et al. Middle East Afr J Ophthalmol. 2018 Jul-Dec;25(3-4):161-162. doi: 10.4103/meajo.MEAJO_263_17. Middle East Afr J Ophthalmol. 2018. PMID: 30765955 Free PMC article.
Knobloch syndrome (KS) is typically characterized by high myopia, vitreoretinal degeneration, retinal detachment, and macular abnormalities. ...
Knobloch syndrome (KS) is typically characterized by high myopia, vitreoretinal degeneration, retinal detachment, and macular …
Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis.
Kague E, Bessling SL, Lee J, Hu G, Passos-Bueno MR, Fisher S. Kague E, et al. Dev Biol. 2010 Jan 15;337(2):496-505. doi: 10.1016/j.ydbio.2009.10.028. Epub 2009 Nov 3. Dev Biol. 2010. PMID: 19895802 Free article.
Type XVIII collagen is a component of basement membranes, and expressed prominently in the eye, blood vessels, liver, and the central nervous system. Homozygous mutations in COL18A1 lead to Knobloch Syndrome, characterized by ocular defects and occipital encephaloce …
Type XVIII collagen is a component of basement membranes, and expressed prominently in the eye, blood vessels, liver, and the central nervou …