TY  - GEN
AU  - Villafuerte,Beatriz
AU  - Natera-de-Benito,Daniel
AU  - González,Aidy
AU  - Mori,María A
AU  - Palomares,María
AU  - Nevado,Julián
AU  - García-Miñaur,Sixto
AU  - Lapunzina,Pablo
AU  - González-Granado,Luis I
AU  - Allende,Luis M
AU  - Moreno,José C
TI  - The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency
SN  - 1878-0849
PY  - 2018///1010
KW  - Athetosis
KW  - genetics
KW  - Child
KW  - Chorea
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 14
KW  - Congenital Hypothyroidism
KW  - Female
KW  - Humans
KW  - Immunologic Deficiency Syndromes
KW  - Phenotype
KW  - Respiratory Distress Syndrome, Newborn
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2018.02.007
ER  -