Tuberous sclerosis in a patient from Nigeria

Simple item page
dc.contributor.authorEkure, E.N.
dc.contributor.authorAddissie, Y.A.
dc.contributor.authorSokunbi, O.J.
dc.contributor.authorKruszka, P.
dc.contributor.authorMuenke, M.
dc.contributor.authorAdeyemo, A.A.
dc.date.accessioned2019-11-02T15:00:12Z
dc.date.available2019-11-02T15:00:12Z
dc.date.issued2019-08
dc.description.abstractTuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by mostly benign tumors of the brain, skin, heart, kidney, and eye. Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC. Because disease manifestations develop over time, early diagnosis and intervention are imperative for patients. TSC is not well described in patients from sub-Saharan Africa or of black African ancestry. Here, we report on a 4-year-old Nigerian boy with skin lesions and cardiac anomalies associated with TSC. Furthermore, we note that in areas with limited resources for genetic diagnoses, the common skin manifestations found in TSC may be especially useful clinical markers.en_US
dc.identifier.citationEkure EN, Addissie YA, Sokunbi OJ, Kruszka P, Muenke M, Adeyemo AA. Tuberous sclerosis in a patient from Nigeria. Am J Med Genet A. 2019 Aug;179(8):1423-1425.en_US
dc.identifier.otherdoi: 10.1002/ajmg.a.61194.
dc.identifier.urihttps://ir.unilag.edu.ng/handle/123456789/6699
dc.language.isoenen_US
dc.publisherWileyen_US
dc.subjectNigeriaen_US
dc.subjectDiverse populationsen_US
dc.subjectTuberous Sclerosisen_US
dc.titleTuberous sclerosis in a patient from Nigeriaen_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Ekure EN et al Tuberous Sclerosis 2019.pdf
Size:
203.74 KB
Format:
Adobe Portable Document Format
Description:
Abstract
Download
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Paediatrics- Scholarly Publications