The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency

Published 2018 View Full Article

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Title
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency
Authors
Keywords
NKX2-1, Brain-lung-thyroid syndrome, NFKBIA, Hypogammaglobulinemia, Joint hyperlaxity
Journal
European Journal of Medical Genetics
Volume 61, Issue 7, Pages 393-398
Publisher
Elsevier BV
Online
2018-02-23
DOI
10.1016/j.ejmg.2018.02.007

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