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Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. ...Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present,
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reducti
[Oculocutaneous and ocular albinism].
Kubasch AS, Meurer M. Kubasch AS, et al. Hautarzt. 2017 Nov;68(11):867-875. doi: 10.1007/s00105-017-4061-x. Hautarzt. 2017. PMID: 29018889 Review. German.
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to in
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnos
[Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].
Zhou QJ, Gong P, Jiao XR, Yang ZX. Zhou QJ, et al. Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Feb 18;55(1):181-185. doi: 10.19723/j.issn.1671-167X.2023.01.028. Beijing Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 36718709 Free PMC article. Review. Chinese.
To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome (AS) complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature. "Angelman syndrome" "P gene" …
To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome ( …
Regulating secretory lysosomes.
Holt OJ, Gallo F, Griffiths GM. Holt OJ, et al. J Biochem. 2006 Jul;140(1):7-12. doi: 10.1093/jb/mvj126. J Biochem. 2006. PMID: 16877763 Review.
The different regulatory components seem to vary from one cell type to another, providing a multitude of ways for fine tuning the release of secretory lysosomes....
The different regulatory components seem to vary from one cell type to another, providing a multitude of ways for fine tuning the rel …
Hermansky-Pudlak syndrome: high-resolution computed tomography findings and literature review.
Bin Saeedan M, Faheem Mohammed S, Mohammed TL. Bin Saeedan M, et al. Curr Probl Diagn Radiol. 2015 Jul-Aug;44(4):383-5. doi: 10.1067/j.cpradiol.2015.01.003. Epub 2015 Jan 30. Curr Probl Diagn Radiol. 2015. PMID: 25728501 Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocutaneous albinism, and life-threatening pulmonary fibrosis. There are 7 HPS genotypes, with type 1 being the most severe. ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocutaneous albin