Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations

Clinical Endocrinology

Volumn 72, Issue 4, 2010, Pages 448-454

  Landau, Zohar ^a   Hanukoglu, Aaron ^a   Sack, Joseph ^b   Goldstein, Nurit ^a   Weintrob, Naomi ^a   Eliakim, Alon ^a   Gillis, David ^c   Sagi, Michal ^c   Shomrat, Ruth ^d   Kosinovsky, Elka Bella ^a   Anikster, Yair ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b MINISTRY OF HEALTH   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROCORTISONE; MINERALOCORTICOID;

ADRENAL INSUFFICIENCY; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CORTISOL DEFICIENCY; DIAGNOSTIC ACCURACY; FAILURE TO THRIVE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HORMONE DEFICIENCY; HUMAN; HYPOALDOSTERONISM; ISRAEL; MALE; MENTAL DEFICIENCY; NR0B1 GENE; PENIS; PRIORITY JOURNAL; SALT WASTING; SEX DIFFERENCE; SEXUAL DEVELOPMENT; TESTIS;

ADRENAL INSUFFICIENCY; CHILD, PRESCHOOL; DAX-1 ORPHAN NUCLEAR RECEPTOR; GENETIC DISEASES, X-LINKED; HUMANS; HYDROCORTISONE; HYPOGONADISM; INFANT; INFANT, NEWBORN; MALE; PEDIGREE;

EID: 77749295082     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2009.03652.x     Document Type: Article

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