Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

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作者： Andrea,Martin-Nalda ^[1] ; Anna M,Cueto-González ^[2] ; Ana,Argudo-Ramírez ^[3] ; Jose L,Marin-Soria ^[3] ; Monica,Martinez-Gallo ^[4] ; Roger,Colobran ^[2] ; Albert,Plaja ^[4] ; Neus,Castells ^[2] ; Jacques,Riviere ^[2] ; Eduardo F,Tizzano ^[1] ; Pere,Soler-Palacin ^[2]

作者单位： Pediatric Infectious Diseases and Immunodeficiencies Unit, Department of Pediatrics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain. ^[1] Department of Clinical and Molecular Genetics, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain. ^[2] Newborn screening laboratory, Section of Congenital Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Catalonia, Spain. ^[3] Immunology Division, Vall d'Hebron Campus Hospitalari, Barcelona, Catalonia, Spain. ^[4] CIBERER (Biomedical Research Center Network in Rare Diseases), Barcelona, Spain. ^[5]

关键词 22q11.2 deletion newborn screening severe combined immunodeficiencye

主题词畸形, 多发性(Abnormalities, Multiple);染色体重复(Chromosome Duplication);染色体, 人, 22对(Chromosomes, Human, Pair 22);共病现象(Comorbidity);比较基因组杂交(Comparative Genomic Hybridization);DNA拷贝数变异(DNA Copy Number Variations);DiGeorge综合征(DiGeorge Syndrome);女(雌)性(Female);人类(Humans);婴儿, 新生(Infant, Newborn);新生儿筛查(Neonatal Screening);重症联合免疫缺陷(Severe Combined Immunodeficiency);西班牙(Spain)

DOI 10.1002/mgg3.1016

PMID 31663686

发布时间 2021-01-10

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Molecular genetics & genomic medicine

2019年7卷12期

e1016页

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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

相关期刊

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