Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening - Liao, Hsuan-Chieh; Liao, Chien-Hui; Kao, Shu-Min; Chiang, Chuan-Chi; Chen, Yann-Jang (The Journal of pediatrics, 2019)
Keywords: 22q11.2 deletion syndrome; copy number assay; DiGeorge syndrome; multiplex ligation-dependent probe amplification; newborn screening; severe combined immunodeficiency; T-cell receptor excision circle; 22q11.2 deletion syndrome; DiGeorge syndrome; T-cell receptor excision circle; severe combined immunodeficiency; SCID; multiplex ligation-dependent probe amplification; MLPA; copy number assay; 22q11.2DS; qPCR; TREC; newborn screening; PCR