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

Abstract Background The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T‐cell receptor excision circles (TRECs), a byp...

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Autores principales:	Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2019-12-01
Colección:	Molecular Genetics & Genomic Medicine
Materias:	22q11.2 deletion newborn screening severe combined immunodeficiencye
Acceso en línea:	https://doi.org/10.1002/mgg3.1016
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