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

Andrea Martin-NaldaAnna M Cueto-GonzálezAna Argudo-RamírezJose L Marin-SoriaMonica Martinez-GalloRoger ColobranAlbert PlajaNeus CastellsJacques RiviereEduardo F TizzanoPere Soler-Palacin
Published in: Molecular genetics & genomic medicine (2019)
Newborn screening for SCID enables detection of several conditions, such as 22q syndromes, which should be managed by prompt, proactive approaches with adequate counseling for families by a multidisciplinary team.
Keyphrases
  • quality improvement
  • palliative care
  • early onset
  • smoking cessation
  • loop mediated isothermal amplification
  • label free
  • hepatitis c virus
  • hiv infected
  • antiretroviral therapy