Mental retardation in a boy with congenital adrenal hypoplasia: A clue to contiguous gene syndrome involving DAX1 and IL1RAPL

Endocrine Journal

Volumn 50, Issue 3, 2003, Pages 303-307

  Sasaki, Rie ^a   Inamo, Yasuji ^b   Saitoh, Kazumasa ^c   Hasegawa, Tomonobu ^a   Kinoshita, Eiichi ^d   Ogata, Tsutomu ^e  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NIHON UNIVERSITY   (Japan)

^c Mitsubishi Kagaku Bio Clinical Laboratories Inc   (Japan)

^d NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Adrenal hypoplasia; Contiguous gene syndrome; DAX1; IL1RAPL; Mental retardation

Indexed keywords

ADRENAL CORTEX INSUFFICIENCY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME XP; CLINICAL FEATURE; CONGENITAL ADRENAL HYPOPLASIA; DAX1 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENETIC LINKAGE; HUMAN; IL1RAPL GENE; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL DEFICIENCY; SYNDROME DELINEATION;

ADRENAL INSUFFICIENCY; CHILD, PRESCHOOL; DNA; DNA-BINDING PROTEINS; HUMANS; INTERLEUKIN-1 RECEPTOR ACCESSORY PROTEIN; MALE; MENTAL RETARDATION; POLYMERASE CHAIN REACTION; RECEPTORS, INTERLEUKIN-1; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS;

EID: 0037932671     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.50.303     Document Type: Article

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