Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. [electronic resource]
- The Journal of pediatrics Apr 2013
- 819-22 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1097-6833
10.1016/j.jpeds.2012.10.012 doi
Adrenal Insufficiency--diagnosis Cholesterol Side-Chain Cleavage Enzyme--deficiency DNA--metabolism Exons Family Health Female Glucocorticoids--deficiency Homozygote Humans Infant, Newborn Introns Kuwait Leukocytes--metabolism Mineralocorticoids--deficiency Models, Genetic Mutation Pedigree Phosphoproteins--deficiency Polymorphism, Restriction Fragment Length Steroidogenic Acute Regulatory Protein