Clinical case seminar: Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 10, 2006, Pages 3713-3717

  Modan Moses, Dalit ^a,b,e   Ben Zeev, Bruria ^a,e   Hoffmann, Chen ^b   Falik Zaccai, Tzipora C ^c   Bental, Yoram A ^d   Pinhas Hamiel, Orit ^a,e   Anikster, Yair ^a,e  

^a Edmond and Lily Safra Children's Hospital   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c WESTERN GALILEE HOSPITAL   (Israel)

^d LANIADO HOSPITAL   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN RECEPTOR; MELANOCORTIN 2 RECEPTOR; NUCLEAR RECEPTOR DAX 1; PROTEIN MRAP; UNCLASSIFIED DRUG; GLUCOCORTICOID; MEMBRANE PROTEIN; MRAP PROTEIN, HUMAN;

ANAMNESIS; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; DNA EXTRACTION; ELECTROENCEPHALOGRAPHY; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GLUCOCORTICOSTEROID DEFICIENCY; HORMONE DEFICIENCY; HUMAN; LABORATORY TEST; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; ARTICLE; GENETICS; INFANT; MENTAL DEFICIENCY; MICROCEPHALY; MUTATION; MYOCLONUS EPILEPSY; QUADRIPLEGIA;

EPILEPSIES, MYOCLONIC; GLUCOCORTICOIDS; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MENTAL RETARDATION; MICROCEPHALY; MUTATION; QUADRIPLEGIA; RECEPTOR, MELANOCORTIN, TYPE 2;

EID: 33749557842     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-0687     Document Type: Conference Paper

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