- Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred
[作者:Malik, S; Schott, J; Schiller, J; Junge, A; Baum, E; Koch, MC,期刊:European Journal of Human Genetics, 页码:265-269 , 文章类型: Article,,卷期:2008年16-2]
- Camptodactyly (MIM 114200) is a digit deformity characterised by permanent flexion contracture of fifth fingers at the proximal interphalangeal (PIP) joints. The sporadic cases are common but a familial occurrence is not...
- Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome
[作者:Moheb, LA; Tzschach, A; Garshasbi, M; Kahrizi, K; Darvish, H; Heshmati, Y; Kordi, A; Najmabadi, H; Ropers, HH; Kuss, AW,期刊:European Journal of Human Genetics, 页码:270-273 , 文章类型: Article,,卷期:2008年16-2]
- We have investigated a consanguineous Iranian family with eight patients who suffer from mental retardation, disturbed equilibrium, walking disability, strabismus and short stature. By autozygosity mapping we identified ...
- Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance (vol 16, pg 14, 2008)
[作者:Homsma, SJM; Huijgen, R; Middeldorp, S; Sijbrands, EJG; Kastelein, JJP,期刊:European Journal of Human Genetics, 页码:275-275 , 文章类型: Correction,,卷期:2008年16-2]
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