Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders

Truelove, A. orcid.org/0000-0003-2941-2052, Mulay, A. orcid.org/0000-0002-5340-5867, Prapa, M. et al. (7 more authors) (2019) Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. American Journal of Medical Genetics Part A. ISSN 1552-4825

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Copyright, Publisher and Additional Information: © 2019 Wiley Periodicals, Inc. This is an author-produced version of a paper subsequently published in American Journal of Medical Genetics Part A. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: Albright hereditary osteodystrophy; acrodysostosis; iPPSD; pseudohypoparathyroidism; pseudopseudohypoparathyroidism
Dates:
  • Accepted: 22 March 2019
  • Published (online): 1 May 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 14 May 2019 15:20
Last Modified: 01 May 2020 00:38
Status: Published online
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.61163
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