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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
22q11.2 deletion
newborn screening
severe combined immunodeficiencye
Online Access:https://doi.org/10.1002/mgg3.1016

Internet

https://doi.org/10.1002/mgg3.1016

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