Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature.

Shaohan HuangYingzi HeXihua LinShuiya SunFenping Zheng

Published in: BMC endocrine disorders (2022)

Hypokalemia is a rare disorder associated with PHP-1b. Analysis of genetic and epigenetic mutations can aid in the diagnosis and accurate subtyping of PHP.

Keyphrases

dna methylation
gene expression
genome wide
high resolution
copy number