A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement

Molecular Genetics and Metabolism

Volumn 78, Issue 1, 2003, Pages 79-81

  Argente, Jesús ^a,b   Ozisik, Gokhan ^c   Pozo, Jesús ^a   Muñoz, M Teresa ^a   Soriano Guillén, Leandro ^a,b   Jameson, J Larry ^c  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^c NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Adrenal insufficiency; DAX1; Delayed puberty; Hypogonadotropic hypogonadism; Salt wasting syndrome

Indexed keywords

ALDOSTERONE; ANGIOTENSIN; CHORIONIC GONADOTROPIN; CORTICOTROPIN; FOLLITROPIN; GONADORELIN; GONADOTROPIN; HYDROCORTISONE; PROGESTERONE; RENIN; TESTOSTERONE;

ADRENAL INSUFFICIENCY; ANEMIA; ARTICLE; CASE REPORT; CHEEK; CODON; COMPUTER ASSISTED TOMOGRAPHY; DAX1 GENE; DIARRHEA; DISEASE ASSOCIATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; GONADORELIN TEST; HORMONE SUBSTITUTION; HOSPITAL ADMISSION; HUMAN; HYPERKALEMIA; HYPERPIGMENTATION; HYPOGLYCEMIA; HYPONATREMIA; HYPOTENSION; LABORATORY TEST; MALE; MALE GENITAL SYSTEM; NEWBORN; PALLOR; PREPUBERTY; PRIORITY JOURNAL; SKIN COLOR; TESTIS DEVELOPMENT; TESTIS SIZE; TESTOSTERONE BLOOD LEVEL;

ABNORMALITIES, MULTIPLE; ADRENAL HYPERPLASIA, CONGENITAL; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FOLLOW-UP STUDIES; HUMANS; HYPERKALEMIA; HYPONATREMIA; INFANT; INFANT, NEWBORN; MALE; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; SEQUENCE DELETION; TESTIS; TRANSCRIPTION FACTORS;

EID: 0347297297     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00198-1     Document Type: Article

References (13)

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