Article

Genetic Evidence Linking the Promoter Region and 5'-UTR Deletion of GNAS with Pseudohypoparathyroidism Type 1C

2026-05-25

Abstract excerpt

<title>Abstract</title> <p> Background Pseudohypoparathyroidism (PHP) is a heterogeneous disorder caused by genetic or epigenetic changes at the <italic>GNAS</italic> locus on chromosome 20q13.3 leading to impaired cyclic adenosine monophosphate (cAMP)-dependent signaling pathway via the alpha-subunit of the stimulatory G protein (G <sub>s</sub> α). Unlike PHP type 1A (PHP1A), which occurs due to <italic>G...

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Literature Corpus work: cd14a083-d2cf-5522-9640-ae988e8c58f7
DOI: 10.21203/rs.3.rs-9510855/v1

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