A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.

Pastore, Stephen

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain. [electronic resource] - Journal of human genetics May 2020 - 493-496 p. digital

Publication Type: Case Reports; Clinical Trial; Journal Article

1435-232X

10.1038/s10038-020-0734-x doi


Adult
Alleles
Family
Hereditary Sensory and Autonomic Neuropathies--genetics
Humans
Male
Mutagenesis, Insertional
Pain Insensitivity, Congenital--genetics
Pakistan
WNK Lysine-Deficient Protein Kinase 1--genetics