A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.

Chihara, M

A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome. [electronic resource] - Journal of the European Academy of Dermatology and Venereology : JEADV Sep 2020 - e476-e478 p. digital

Publication Type: Letter

1468-3083

10.1111/jdv.16384 doi


Cardiomegaly
Humans
Hypertrichosis--genetics
Japan
KATP Channels--genetics
Mutation
Osteochondrodysplasias