Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)-Reference-Cited by-同舟云学术

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

Published:2019-10-30 Issue:12 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Martin‐Nalda Andrea¹^ORCID,Cueto‐González Anna M.²,Argudo‐Ramírez Ana³,Marin‐Soria Jose L.³,Martinez‐Gallo Monica⁴,Colobran Roger²⁴,Plaja Albert²,Castells Neus²,Riviere Jacques¹,Tizzano Eduardo F.²⁵,Soler‐Palacin Pere¹

Affiliation:

1. Pediatric Infectious Diseases and Immunodeficiencies Unit Department of Pediatrics Vall d’Hebron Campus Hospitalari Barcelona Catalonia Spain

2. Department of Clinical and Molecular Genetics Vall d’Hebron Campus Hospitalari Barcelona Catalonia Spain

3. Newborn screening laboratory Section of Congenital Errors of Metabolism, Biochemistry and Molecular Genetics Department Hospital Clinic Barcelona Catalonia Spain

4. Immunology Division Vall d’Hebron Campus Hospitalari Barcelona Catalonia Spain

5. CIBERER (Biomedical Research Center Network in Rare Diseases) Barcelona Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1016

Reference21 articles.

1. Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

2. Newborn screening programs: Should 22q11 deletion syndrome be added?

3. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency