Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Cooper, Paige E

Cantú syndrome resulting from activating mutation in the KCNJ8 gene. [electronic resource] - Human mutation Jul 2014 - 809-13 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.22555 doi


Adolescent
Cardiomegaly--diagnosis
DNA Mutational Analysis
Facies
Genetic Diseases, X-Linked--diagnosis
Humans
Hypertrichosis--diagnosis
KATP Channels--chemistry
Male
Membrane Potentials
Models, Molecular
Mutation
Mutation, Missense
Osteochondrodysplasias--diagnosis
Phenotype
Protein Conformation