domingo, 24 de agosto de 2014

alzheimer - Conditions - GTR - NCBI

alzheimer - Conditions - GTR - NCBI

Results: 21 to 40 of 40

Acne inversa is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. Healing occurs with substantial scarring. The prevalence of acne inversa has been estimated at 1 in 100 to 1 in 600. The female-to-male ratio in most published series is between 2:1 and 5:1 (Jansen et al., 2001).
Jansen et al. (2001) provided a detailed history and review of the disorder.
Genetic Heterogeneity of Familial Acne Inversa
Familial acne inversa-2 (ACNINV2; 613736) is caused by haploinsufficiency for the PSENEN gene (607632) on chromosome 19q13.1. Familial acne inversa-3 (ACNINV3; 613737) is caused by haploinsufficiency for the PSEN1 gene (104311) on chromosome 14q24.3, making this disorder allelic to early-onset Alzheimer disease (607822).
 [from OMIM]
Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM]
rather uncommon form of familial hyperlipemia characterized by the presence of lipoproteins of abnormal composition; the main abnormal lipoproteins are called beta-VLDL and have a different apoprotein content and a higher proportion of cholesterol relative to triglyceride than normal VLDL. [from CRISP]

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