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Volumn 6, Issue 2, 2015, Pages 342-345

Mosaic 22q11.2 Deletion and Tetralogy of Fallot With Absent Pulmonary Valve: An Unreported Association

Author keywords

22q11.2 deletion; absent pulmonary valve; mosaicism; tetralogy of Fallot

Indexed keywords

ARTICLE; ARTIFICIAL VENTILATION; BRONCHOMALACIA; CASE REPORT; CD4 CD8 RATIO; CHROMOSOME 22; CHROMOSOME DELETION 22Q11; CHROMOSOME MOSAICISM; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; ENDOTRACHEAL INTUBATION; FALLOT TETRALOGY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HEART VENTRICLE SEPTUM DEFECT; HIRA GENE; HUMAN; LYMPHOCYTE SUBPOPULATION; MALE; METAPHASE; MICROARRAY ANALYSIS; NEWBORN; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; PULMONARY ARTERY ANEURYSM; PULMONARY VALVE; SHANK3 GENE; TRANSTHORACIC ECHOCARDIOGRAPHY; CHROMOSOME DELETION; CONGENITAL MALFORMATION; GENETICS; SYNDROME;

EID: 84941730668     PISSN: 21501351     EISSN: 2150136X     Source Type: Journal    
DOI: 10.1177/2150135114561686     Document Type: Article
Times cited : (4)

References (6)
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  • 2
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    • Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome
    • Versacci P,Digilio MC,Sauer U,Dallapiccola B,Marino B.Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome.Am J Med Genet. 2005;138A (2): 185-186
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  • 5
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    • Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome
    • Consevage MW,Seip JR,Belchis DA,Davis AT,Baylen BG,Rogan PK.Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome.Am J Cardiol. 1996;77 (11): 1023-1025
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    • Dempsey MA,Schwartz S,Waggoner DJ.Mosaicism del (22) (q11.2q11.2)/dup (22) (q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.Am J Med Genet A. 2007;143A (10): 1082-1086
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    • Dempsey, M.A.1    Schwartz, S.2    Waggoner, D.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.