Ontology highlight
ABSTRACT:
SUBMITTER: Schnur RE
PROVIDER: S-EPMC1377018 | biostudies-other | 1998 Apr
REPOSITORIES: biostudies-other
Schnur R E RE Gao M M Wick P A PA Keller M M Benke P J PJ Edwards M J MJ Grix A W AW Hockey A A Jung J H JH Kidd K K KK Kistenmacher M M Levin A V AV Lewis R A RA Musarella M A MA Nowakowski R W RW Orlow S J SJ Pagon R S RS Pillers D A DA Punnett H H HH Quinn G E GE Tezcan K K Wagstaff J J Weleber R G RG
American journal of human genetics 19980401 4
X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by decreased ocular pigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity. Affected males usually demonstrate melanin macroglobules on skin biopsy. We now report results of deletion and mutation screening of the full-length OA1 gene in 29 unrelated North American and Australian X-linked ocular albinism (OA) probands, including five with additional, nonocular phenotypic abnormalities (Schnur et ...[more]