Genotype phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review

CONCLUSIONS: This study revealed the correlation between loss-of-function RVs with round face and subcutaneous ossifications in PHP 1a patients. Further exploration on genotype phenotype correlations through more standardized and prospective studies with long-term follow-up is necessary.PMID:37837607 | DOI:10.1093/ejendo/lvad142

Source: European Journal of Endocrinology - October 14, 2023 Category: Endocrinology Authors: Siqi Jiang Yi Yang An Song Yue Jiang Yan Jiang Mei Li Weibo Xia Min Nie Ou Wang Xiaoping Xing Source Type: research