Villafuerte, Beatriz

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. [electronic resource] - European journal of medical genetics Jul 2018 - 393-398 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2018.02.007 doi


Athetosis--genetics
Child
Chorea--genetics
Chromosome Deletion
Chromosomes, Human, Pair 14--genetics
Congenital Hypothyroidism--genetics
Female
Humans
Immunologic Deficiency Syndromes--genetics
Phenotype
Respiratory Distress Syndrome, Newborn--genetics