Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Barraza-García, J., Rivera-Pedroza, C.I., Hisado-Oliva, A. et al. (10 more authors) (2017) Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. Clinical Genetics. ISSN 0009-9163

Abstract

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Authors/Creators:
  • Barraza-García, J.
  • Rivera-Pedroza, C.I.
  • Hisado-Oliva, A.
  • Belinchón-Martínez, A.
  • Sentchordi-Montané, L.
  • Duncan, E.L.
  • Clark, G.R.
  • Del Pozo, A.
  • Ibáñez-Garikano, K.
  • Offiah, A. ORCID logo https://orcid.org/0000-0001-8991-5036
  • Prieto-Matos, P.
  • Cormier-Daire, V.
  • Heath, K.E.
Copyright, Publisher and Additional Information: © 2017 Wiley. This is an author produced version of a paper subsequently published in Clinical Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: POP1; RMRP; anauxetic dysplasia; bone; skeletal dysplasia
Dates:
  • Published (online): 9 January 2017
  • Accepted: 4 January 2017
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield) > Division of Genomic Medicine (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 25 Jan 2017 15:36
Last Modified: 09 Jan 2018 01:38
Published Version: https://doi.org/10.1111/cge.12964
Status: Published online
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1111/cge.12964
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