Tenascin-X haploinsufficiency associated with ehlers-danlos syndrome in patients with congenital adrenal hyperplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 2, 2013, Pages

  Merke, Deborah P ^a,b,e   Chen, Wuyan ^d   Morissette, Rachel ^d   Xu, Zhi ^d   Van Ryzin, Carol ^a   Sachdev, Vandana ^c   Hannoush, Hwaida ^c   Shanbhag, Sujata M ^c   Acevedo, Ana T ^a   Nishitani, Miki ^a   Arai, Andrew E ^c   McDonnell, Nazli B ^d  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYP21A2 PROTEIN; GENOMIC DNA; OXYGENASE; TENASCIN; TENASCIN X; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTHRALGIA; ARTICLE; CHILD; CHRONIC PAIN; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE MARKER; ECHOCARDIOGRAPHY; EHLERS DANLOS SYNDROME; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; JOINT DISLOCATION; JOINT LAXITY; MAJOR CLINICAL STUDY; MALE; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MULTIPLEX POLYMERASE CHAIN REACTION; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN EXPRESSION; SCHOOL CHILD; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; STOP CODON; TENASCIN X A GENE; TENASCIN X B GENE; TENASCIN X GENE; VALVULAR HEART DISEASE; WESTERN BLOTTING;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DISLOCATIONS; EHLERS-DANLOS SYNDROME; FEMALE; HAPLOINSUFFICIENCY; HUMANS; INFANT; JOINT INSTABILITY; MALE; MIDDLE AGED; MUTATION; PAIN; STEROID 21-HYDROXYLASE; TENASCIN;

EID: 84873688881     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-3148     Document Type: Article

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