NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome

Clin Genet. 2021 Jul;100(1):114-116. doi: 10.1111/cge.13961. Epub 2021 Mar 29.

Authors

Affiliations

¹ Academic Hospital of Udine, Udine, Italy.
² Department of Neuroscience, University of Padua, Padua, Italy.
³ Department of Medicine, University of Udine, Udine, Italy.
⁴ Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.

Abstract

Publication types

Letter

MeSH terms

Adult
Aged
Amino Acid Sequence
Athetosis / genetics*
Cell Line, Tumor
Child
Chorea / genetics*
Congenital Hypothyroidism / genetics*
Female
HeLa Cells
Humans
Male
Middle Aged
Mutation / genetics*
Respiratory Distress Syndrome, Newborn / genetics*
Thyroid Nuclear Factor 1 / genetics*

Substances

NKX2-1 protein, human
Thyroid Nuclear Factor 1

Supplementary concepts

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress