AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination

Edgerley, K., Barnicoat, A., Offiah, A.C. orcid.org/0000-0001-8991-5036 et al. (13 more authors) (2021) AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination. American Journal of Medical Genetics Part A, 185 (4). pp. 1228-1235. ISSN 1552-4825

Abstract

Metadata

Authors/Creators:
  • Edgerley, K.
  • Barnicoat, A.
  • Offiah, A.C. ORCID logo https://orcid.org/0000-0001-8991-5036
  • Calder, A.D.
  • Mankad, K.
  • Thomas, N.S.
  • Bunyan, D.J.
  • Williams, M.
  • Buxton, C.
  • Majumdar, A.
  • Vijayakumar, K.
  • Hilliard, T.
  • Turner, J.
  • Burren, C.P.
  • Monsell, F.
  • Smithson, S.F.
Copyright, Publisher and Additional Information: © 2021 Wiley Periodicals LLC. 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: AIFM1; SMD-H; cerebral hypomyelination; hypomyelinating leukodystrophy; skeletal dysplasia; spondylometaphyseal dysplasia
Dates:
  • Accepted: 5 December 2020
  • Published (online): 13 January 2021
  • Published: April 2021
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 21 Jan 2021 12:14
Last Modified: 10 Feb 2022 15:31
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.62072
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