Pseudohypoparathyroidism: one gene, several syndromes

@article{Tafaj2016PseudohypoparathyroidismOG,
  title={Pseudohypoparathyroidism: one gene, several syndromes},
  author={O. Tafaj and H. J{\"u}ppner},
  journal={Journal of Endocrinological Investigation},
  year={2016},
  volume={40},
  pages={347-356}
}
AbstractPseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Heterozygous inactivating mutations involving the maternal GNAS exons 1–13 cause PHP type Ia (PHP1A). Because of much reduced paternal Gs… Expand
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