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Identification of novel pathogenic variants and phenotypic features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly defined inactivating PTH/PTHrP signalling disorders (iPPSD) classification system

Endocrine Abstracts(2019)

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Abstract
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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Key words
pseudohypoparathyroidism,acrodysostosis,inactivating pth/pthrp,novel pathogenic variants
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