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AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY
Retina, 1997Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially in the ocular fundus.
J, Roider +4 more
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Autosomal dominant erythromelalgia
American Journal of Medical Genetics, 1992AbstractWe present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature.
W H, Finley +4 more
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Autosomal Recessive Hypercholesterolemia
Seminars in Vascular Medicine, 2004Autosomal recessive hypercholesterolemia (ARH) presents with a clinical phenotype similar to that of classical homozygous familial hypercholesterolemia (FH) caused by defects in the low-density lipoprotein (LDL) receptor gene but is more variable, generally less severe, and more responsive to lipid-lowering therapy than homozygous FH; furthermore, FH ...
Anne K, Soutar, Rossitza P, Naoumova
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Autosomal recessive parkinsonism
Parkinsonism & Related Disorders, 2012Several forms of autosomal recessive parkinsonism are known. In three forms, caused by mutations in parkin (PARK2), PINK1 (PARK6), or DJ-1 (PARK7), the phenotype is usually characterized by levodopa-responsive parkinsonism without atypical features. Parkin mutations are most frequent, explaining -50% of the cases with a clinical diagnosis of familial ...
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Autosomal Chromosome Aberrations
1976Prior to the introduction of cytogenetic techniques in human medicine some 15 years ago, only a single chromosome aberration syndrome, Down’s syndrome, was known clinically, but its etiology was still unclear. By direct chromosome examination, it was later shown that the clinical picture of Down’s syndrome is caused by the presence of an additional No.
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