TY  - GEN
AU  - Gucev,Zoran S
AU  - Tee,Meng Kian
AU  - Chitayat,David
AU  - Wherrett,Diane K
AU  - Miller,Walter L
TI  - Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure
SN  - 1097-6833
PY  - 2013///0516
KW  - Adrenal Insufficiency
KW  - diagnosis
KW  - Cholesterol Side-Chain Cleavage Enzyme
KW  - deficiency
KW  - DNA
KW  - metabolism
KW  - Exons
KW  - Family Health
KW  - Female
KW  - Glucocorticoids
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Introns
KW  - Kuwait
KW  - Leukocytes
KW  - Mineralocorticoids
KW  - Models, Genetic
KW  - Mutation
KW  - Pedigree
KW  - Phosphoproteins
KW  - Polymorphism, Restriction Fragment Length
KW  - Steroidogenic Acute Regulatory Protein
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.jpeds.2012.10.012
ER  -