- Original Article
- A Case of Xp21 Contiguous Gene Deletion Syndrome with Hyperglycerolemia, Congenital Adrenal Hypoplasia and Duchenne Muscular Dystrophy
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Dae-Won Shin, Jun Huh, Hong-Jin Lee, Won-Ill Park, Kyung-Ja Lee, Yoon-Sook Shin, D.R. Sjarif, B.T. Poll-The
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Clin Exp Pediatr. 2001;44(1):83-88. Published online January 15, 2001
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On Xp21 region several genes such as adrenal hypoplasia congenita(AHC) gene, glycerol kinase (GK) gene and Duchenne muscular dystrophy(DMD) gene are located contiguously. If there is a long deletion in that region, various combination of genetic defect can be occurred from one kind of genetic defect to all three kinds of genetic defect simultaneously. In case of more than two... |
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