Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort

Journal of Clinical Endocrinology and Metabolism

Volumn 101, Issue 1, 2016, Pages 284-292

  Guran, Tulay ^a,b   Buonocore, Federica ^c,d   Saka, Nurcin ^d   Ozbek, Mehmet Nuri ^e   Aycan, Zehra ^a,f   Bereket, Abdullah ^a,h   Bas, Firdevs ^c   Darcan, Sukran ^g   Bideci, Aysun ^a   Guven, Ayla ^i,j,l   Demir, Korcan ^k   Akinci, Aysehan ^m   Buyukinan, Muammer ⁿ   Aydin, Banu Kucukemre ^d   Turan, Serap ^a   Agladioglu, Sebahat Yilmaz ^f   Atay, Zeynep ^a   Abali, Zehra Yavas ^d   Tarim, Omer ^o   Catli, Gonul ^p   Yuksel, Bilgin ^q   Akcay, Teoman ^r   Yildiz, Metin ^i,l   Ozen, Samim ^g   Doger, Esra ^h   Demirbilek, Huseyin ^e   Ucar, Ahmet ^s   Isik, Emregul ^t   Ozhan, Bayram ^u   Bolu, Semih ^v   Ozgen, Ilker Tolga ^w   Suntharalingham, Jenifer P ^c   Achermann, John C ^c   more..

^a MARMARA UNIVERSITY   (Turkey)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ISTANBUL UNIVERSITY   (Turkey)

^e Diyarbakir Hospital for Children   (Turkey)

^f Dr Sami Ulus Obstetrics and Gynecology   (Turkey)

^g EGE UNIVERSITY   (Turkey)

^h GAZI UNIVERSITY   (Turkey)

ⁱ Pediatric Endocrinology Clinic   (Turkey)

^j GOZTEPE TRAINING AND RESEARCH HOSPITAL   (Turkey)

^k AMASYA UNIVERSITY   (Turkey)

^l Dr Behaetuz Children's Hospital   (Turkey)

^m INONU UNIVERSITY   (Turkey)

ⁿ KONYA TRAINING AND RESEARCH HOSPITAL   (Turkey)

^o ULUDAG UNIVERSITY   (Turkey)

^p Doha Eylul University   (Turkey)

^q CUKUROVA UNIVERSITY   (Turkey)

^r Kanuni Sultan Suleyman Education and Research Hospital   (Turkey)

^s Children's Hospital at Sanliurfa   (Turkey)

^t Gaziantep Children Hospital   (Turkey)

^u PAMUKKALE UNIVERSITY   (Turkey)

^v DUZCE UNIVERSITY   (Turkey)

^w BEZMIALEM VAKIF UNIVERSITY   (Turkey)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CORTICOTROPIN; NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) TRANSHYDROGENASE; DNA;

AAAS GENE; ABCD1 GENE; ADRENAL INSUFFICIENCY; ARTICLE; CHILD; CLINICAL EVALUATION; CLINICAL FEATURE; COHORT ANALYSIS; CYP11A1 GENE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC ANALYSIS; GENETIC PROCEDURES; GENETIC VARIABILITY; HIGH THROUGHPUT SEQUENCING; HUMAN; MAJOR CLINICAL STUDY; MALE; MC2R GENE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MRAP GENE; MUTATIONAL ANALYSIS; NEWBORN; NEXT GENERATION SEQUENCING; NNT GENE; NONSENSE MUTATION; NR0B1 GENE; NR5A1 GENE; PRIMARY ADRENAL INSUFFICIENCY; PRIORITY JOURNAL; SEQUENCE CAPTURE; STRUCTURED QUESTIONNAIRE; ADOLESCENT; EPIDEMIOLOGY; GENE EXPRESSION; GENETIC VARIATION; GENETICS; INFANT; MUTATION; ONSET AGE; PRESCHOOL CHILD; TURKEY;

ADOLESCENT; ADRENAL INSUFFICIENCY; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA; FEMALE; GENE EXPRESSION; GENETIC VARIATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; TURKEY;

EID: 84954515152     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-3250     Document Type: Article

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