One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome

ABSTRACT: Mutations in the insulin receptor (INSR) gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). Insulin resistance is a feature of both diseases.

SUBMITTER: Chen X 

PROVIDER: S-EPMC5985390 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature