Phenotypic and genotypic features of a large kindred with a germline AIP variant.

Jakob DalEigil H NielsenMarianne KloseUlla Feldt-RasmussenMarianne AndersenSøren VangMárta KorbonitsJens Otto Lunde Jørgensen

Published in: Clinical endocrinology (2020)

This large family adds new information on the p.R304Q AIP variant, and data suggest two new candidate genes could be associated with growth hormone excess.

Keyphrases

growth hormone
electronic health record
dna repair
big data
health information
oxidative stress
data analysis