Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 1, 2013, Pages 1945-7197

  Baquedano, María Sonia ^a   Guercio, Gabriela ^a   Marino, Roxana ^a   Berensztein, Esperanza ^a   Costanzo, Mariana ^a   Bailez, Marcela ^a   Vaiani, Elisa ^a   Maceiras, Mercedes ^a   Ramirez, Pablo ^a   Chaler, Eduardo ^a   Rivarola, Marco A ^a   Belgorosky, Alicia ^a,b,c  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^b Research Career Award   (United States)

^c Facultad de Ciencias Naturales e Instituto M Lillo   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ANDROSTENEDIONE; CHORIONIC GONADOTROPIN; CORTICOTROPIN; FLUDROCORTISONE; FOLLITROPIN; GONADOTROPIN DERIVATIVE; HYDROCORTISONE; HYDROXYPROGESTERONE; LUTEINIZING HORMONE; PRASTERONE SULFATE; TESTOSTERONE;

ADOLESCENT; ADRENAL INSUFFICIENCY; ARTICLE; BONE AGE; CASE REPORT; CAUCASIAN; CHILD; CONGENITAL ADRENAL HYPERPLASIA; CORTICOTROPIN BLOOD LEVEL; ESTROGEN THERAPY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE; GENE MUTATION; GENETIC ANALYSIS; HORMONE DETERMINATION; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; HYPERTENSION; HYPOSPADIAS; JAUNDICE; LABORATORY TEST; LUTEINIZING HORMONE BLOOD LEVEL; MALE; NUCLEOTIDE SEQUENCE; PLASMA RENIN ACTIVITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SODIUM RESTRICTION; STAR GENE; STEROID BLOOD LEVEL; STEROIDOGENESIS; UROGENITAL SINUS;

EID: 84872080675     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-2865     Document Type: Article

References (41)

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