Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure.

Gucev, Zoran S

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