STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: Insights from a novel splice mutation and review of reported cases

Clinical Endocrinology

Volumn 80, Issue 2, 2014, Pages 191-199

  Camats, Núria ^a   Pandey, Amit V ^a   Fernández Cancio, Mõnica ^b   Fernández, Juan M ^c   Ortega, Ana M ^c   Udhane, Sameer ^a   Andaluz, Pilar ^b   Audí, Laura ^b   Flück, Christa E ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ANDROSTENEDIONE; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CORTICOTROPIN; FLUDROCORTISONE; HYDROCORTISONE; HYDROXYPROGESTERONE; PRASTERONE SULFATE; STEROIDOGENIC ACUTE REGULATORY PROTEIN;

3' UNTRANSLATED REGION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; CONSANGUINITY; CRYSTAL STRUCTURE; CYTOGENETICS; DEHYDRATION; DISEASE SEVERITY; EXON SKIPPING; FEMALE; FLUID THERAPY; GENETIC ANALYSIS; HOMOZYGOTE; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERKALEMIA; HYPOGLYCEMIA; HYPONATREMIA; INTRON; KARYOTYPE 46,XX; LIPOID CONGENITAL ADRENAL HYPERPLASIA; LOSS OF FUNCTION MUTATION; NEWBORN; PHENOTYPE; PLASMA RENIN ACTIVITY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN SECONDARY STRUCTURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICING DEFECT; WILD TYPE;

46, XY DISORDERS OF SEX DEVELOPMENT; ADRENAL HYPERPLASIA, CONGENITAL; ADRENAL INSUFFICIENCY; ALTERNATIVE SPLICING; ANIMALS; BINDING SITES; CERCOPITHECUS AETHIOPS; CHOLESTEROL; COS CELLS; EXONS; FEMALE; HUMANS; INFANT, NEWBORN; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PHOSPHOPROTEINS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY;

EID: 84891865718     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12293     Document Type: Article

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