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Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.
Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Al-Hussain H, et al. Am J Med Genet A. 2004 Jan 1;124A(1):28-34. doi: 10.1002/ajmg.a.20326. Am J Med Genet A. 2004. PMID: 14679583 Review.
The brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture following only minor trauma, keratoconus or keratoglobus, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility o …
The brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture followin …
Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature.
Incandela C, D'Oria F, Lapenna L, Acquaviva A. Incandela C, et al. Eur J Ophthalmol. 2024 Jan;34(1):11-17. doi: 10.1177/11206721231171426. Epub 2023 Apr 18. Eur J Ophthalmol. 2024. PMID: 37073081 Review.
A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene that led to the diagnosis of Brittle Cornea Syndrome (BCS), a rare autosomal recessive disorder characterized by corneal …
A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene t …
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Skalicka P, Porter LF, Brejchova K, Malinka F, Dudakova L, Liskova P. Skalicka P, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Jun;164(2):183-188. doi: 10.5507/bp.2019.017. Epub 2019 Apr 17. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020. PMID: 31025659 Free article. Review.
AIMS: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. ...Sequence variants in ZNF469 previously reported as BCS type 1-causing were searched in the literature, manually curated and aligned to the reference sequence NM_001127464.2. …
AIMS: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. ...Sequence variants in ZNF469 previously r …
Biological functions of iduronic acid in chondroitin/dermatan sulfate.
Thelin MA, Bartolini B, Axelsson J, Gustafsson R, Tykesson E, Pera E, Oldberg Å, Maccarana M, Malmstrom A. Thelin MA, et al. FEBS J. 2013 May;280(10):2431-46. doi: 10.1111/febs.12214. Epub 2013 Mar 28. FEBS J. 2013. PMID: 23441919 Free PMC article. Review.
Iduronic acid is formed by two epimerases (i.e. dermatan sulfate epimerase 1 and 2) that have different tissue distribution and properties. The role of iduronic acid in chondroitin/dermatan sulfate is highlighted by the vast changes in connective tissue features in patient …
Iduronic acid is formed by two epimerases (i.e. dermatan sulfate epimerase 1 and 2) that have different tissue distribution and prope …