22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.

Lee, Chung-Lin; Lin, Shan-Miao; Chen, Ming-Ren; Chuang, Chih-Kuang; Chiu, Huei-Ching; Tu, Yuan-Rong; Lo, Yun-Ting; Chang, Ya-Hui; Lin, Hsiang-Yu; Lin, Shuan-Pei

Lee, Chung-Lin; Lin, Shan-Miao; Chen, Ming-Ren; Chuang, Chih-Kuang; Chiu, Huei-Ching; Tu, Yuan-Rong; Lo, Yun-Ting; Chang, Ya-Hui; Lin, Hsiang-Yu; Lin, Shuan-Pei.

Afiliação

Lee CL; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
Lin SM; Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei, Taiwan.
Chen MR; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.
Chuang CK; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
Chiu HC; Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan.
Tu YR; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
Lo YT; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
Chang YH; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Lin HY; College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan.
Lin SP; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.

Int J Med Sci ; 20(11): 1377-1385, 2023.

Article em En | MEDLINE | ID: mdl-37790845

Assuntos

Síndrome de DiGeorge; Cardiopatias Congênitas; Hipocalcemia; Tetralogia de Fallot; Humanos; Feminino; Masculino; Síndrome de DiGeorge/genética; Síndrome de DiGeorge/diagnóstico; Tetralogia de Fallot/genética; Hipocalcemia/genética; Hibridização in Situ Fluorescente; Taiwan/epidemiologia; Estudos Transversais; Hibridização Genômica Comparativa; Cardiopatias Congênitas/genética; Sistema Imunitário; Deleção Cromossômica

Palavras-chave

22q11.2 deletion syndrome; T-cell defect; Taiwan; congenital heart disease; intellectual disability

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tetralogia de Fallot / Síndrome de DiGeorge / Cardiopatias Congênitas / Hipocalcemia Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Int J Med Sci Assunto da revista: MEDICINA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Taiwan

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