42 research outputs found
Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
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Deafness-Dystonia-Optic Neuronopathy Syndrome:GeneReviews [Internet] at Gene Tests: Medical Information Resource [database online]
No full textGenetics of complex diseases
No full textApproaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation. LBSL, Mitochondrial Aspartyl-tRNA Synthetase Deficiency
No full textRelated Disorders:GeneReviews [Internet] at Gene Tests: Medical Information Resource [database online]
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