Genotypic and phenotypic heterogeneity in familial microcoria
نویسندگان
چکیده
منابع مشابه
Genotypic and phenotypic heterogeneity in familial microcoria.
AIMS To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait. METHODS Both affected and unaffected members of two families displaying familial microcoria were examined. Flash photography or infrared pupillography were used to assess pupils, and a full ophthalmic examination including visual acuity and field tes...
متن کاملSCIENTIFIC REPORT Genotypic and phenotypic heterogeneity in familial microcoria
Aims: To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait. Methods: Both affected and unaffected members of two families displaying familial microcoria were examined. Flash photography or infrared pupillography were used to assess pupils, and a full ophthalmic examination including visual acuity and field tes...
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Familial Milroy lymphedema (ML) is classified as an autosomal dominant disorder characterized by peripheral edema of the lower extremities at birth or in early childhood. The variety of phenotypes are not well described, and the genomic location and functional expression of the gene or genes underlying this and related familial lymphedema syndromes remain largely unknown. In this collaborative ...
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The presence of lecithin:cholesterol acyltransferase (LCAT) deficiency in six probands from five families originating from four different countries was confirmed by the absence or near absence of LCAT activity. Also, other invariate symptoms of LCAT deficiency, a significant increase of unesterified cholesterol in plasma lipoproteins and the reduction of plasma HDLcholesterol to levels below on...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2004
ISSN: 0007-1161
DOI: 10.1136/bjo.2003.027169