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expressivity
- Reduced penetrance and variable expressivity are factors that influence the effects of particular genetic changes. These factors usually affect disorders that have an autosomal dominant ...
- 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the ...
- 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the ...
- 17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on ...
- GeneReviews Glossary (National Center for Biotechnology Information)Genetic Testing/Reference Desk ... Genetic Testing ... Newborn Screening/Reference Desk ... Newborn Screening ... National Center for Biotechnology Information ... From the National ...
- ... the condition? What are reduced penetrance and variable expressivity? What do geneticists mean by anticipation? What are ...
- ... SH. Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental ...
- ... in patients with familial exudative vitreoretinopathy with variable expressivity. Br J Ophthalmol. 2003 Oct;87(10):1291- ...
- ... JA, Griffith AJ, Friedman TB, Choi BY. Variable expressivity of FGF3 mutations associated with deafness and LAMM ...
- ... review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod. 2004 ...