- A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
-
Son YY, Lee B, Suh CR, Nam HK, Lee JH, Hong YS, Lee JW
- KMID: 2055591
- J Genet Med.
- 2015 Jun;12(1):57-60.
- doi: 10.5734/JGM.2015.12.1.57
CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in... -
- CITED
-
- Close
- SHARE
-
- Close
