Articles with "php1a" as a keyword



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Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity

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Published in 2018 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.3450

Abstract: Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal methylation at maternal GNAS promoter(s), respectively. Adult PHP1A patients are reportedly obese and short,… read more here.

Keywords: growth; onset obesity; early onset; php1a ... See more keywords