Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 7, 2013, Pages 2611-2616

  New, Maria I ^a   Abraham, Moolamannil ^a   Gonzalez, Brian ^a   Dumic, Miroslav ^b   Razzaghy Azar, Maryam ^c   Chitayat, David ^d   Sun, Li ^a   Zaidi, Mone ^a   Wilson, Robert C ^e   Yuen, Tony ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b KBC Zagreb   (Croatia)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

Genotype phenotype association; Pseudogene derived mutations

Indexed keywords

ALDOSTERONE; ANDROSTENEDIONE; HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE; TESTOSTERONE;

ADRENAL CORTEX INSUFFICIENCY; ALDOSTERONE BLOOD LEVEL; ALDOSTERONE RELEASE; AMBIGUOUS GENITALIA; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL ADRENAL HYPERPLASIA; DISEASE SEVERITY; ENZYME ACTIVITY; ETHNIC GROUP; EXON; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HORMONAL THERAPY; HUMAN; HYPERANDROGENISM; HYPERKALEMIA; HYPONATREMIA; MAJOR CLINICAL STUDY; MALE; MIDDLE EAST; PHENOTYPIC VARIATION; PLASMA RENIN ACTIVITY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SALT WASTING; SODIUM RETENTION; STEROID 21 MONOOXYGENASE DEFICIENCY; TESTOSTERONE BLOOD LEVEL; VIRILIZATION;

ADRENAL HYPERPLASIA, CONGENITAL; COHORT STUDIES; ETHNIC GROUPS; GENE DELETION; GENE FREQUENCY; GENOTYPE; HUMANS; MODELS, GENETIC; MUTATION; NEW YORK; PHENOTYPE; STEROID 21-HYDROXYLASE;

EID: 84873702169     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1300057110     Document Type: Article

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