Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity
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 کاملtype 2 gaucher disease (acute infantile gaucher disease or neuropathic type)
how to cite this article: taghdiri mm. type 2 gaucher disease (acute infantile gaucher disease or neuropathic type). iran j child neurol autumn 2012; 6:4 (suppl. 1):12. pls see pdf.
متن کاملGenetic heterogeneity in Gaucher disease.
Considerable clinical variability occurs in adult Gaucher disease type I and three main subtypes may be delineated: a very mild form, a severe form, and a moderate form which itself presents various clinical manifestations. A study based on 25 families from our clinic and a review of published reports showed that when both parents were heterozygous and more than one child was affected with Gauc...
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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 ...
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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ژورنال
عنوان ژورنال: Blood Cells, Molecules, and Diseases
سال: 2011
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2010.08.012