- Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
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Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS
- KMID: 2363163
- Ann Lab Med.
- 2015 Jan;35(1):141-145.
- doi: 10.3343/alm.2015.35.1.141
CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear... -
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