Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Rosenhahn, E., O’Brien, T.J., Zaki, M.S. et al. (44 more authors) (2022) Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. American Journal of Human Genetics, 109 (8). pp. 1421-1435. ISSN 0002-9297

Abstract

Metadata

Item Type: Article
Authors/Creators:
  • Rosenhahn, E.
  • O’Brien, T.J.
  • Zaki, M.S.
  • Sorge, I.
  • Wieczorek, D.
  • Rostasy, K.
  • Vitobello, A.
  • Nambot, S.
  • Alkuraya, F.S.
  • Hashem, M.O.
  • Alhashem, A.
  • Tabarki, B.
  • Alamri, A.S.
  • Al Safar, A.H.
  • Bubshait, D.K.
  • Alahmady, N.F.
  • Gleeson, J.G.
  • Abdel-Hamid, M.S.
  • Lesko, N.
  • Ygberg, S.
  • Correia, S.P.
  • Wredenberg, A.
  • Alavi, S.
  • Seyedhassani, S.M.
  • Nasab, M.E.
  • Hussien, H.
  • Omar, T.E.I.
  • Harzallah, I.
  • Touraine, R.
  • Tajsharghi, H.
  • Morsy, H.
  • Houlden, H.
  • Shahrooei, M.
  • Ghavideldarestani, M.
  • Abdel-Salam, G.M.H.
  • Torella, A.
  • Zanobio, M.
  • Terrone, G.
  • Brunetti-Pierri, N.
  • Omrani, A.
  • Hentschel, J.
  • Lemke, J.R.
  • Sticht, H.
  • Jamra, R.A.
  • Brown, A.E.X.
  • Maroofian, R.
  • Platzer, K.
Copyright, Publisher and Additional Information:

© 2022 The Authors. This is an open access article under the terms of the Creative Commons Attribution License (CC-BY 4.0), which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited.

Dates:
  • Accepted: 13 June 2022
  • Published (online): 12 July 2022
  • Published: 4 August 2022
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Biological Sciences (Leeds) > School of Molecular and Cellular Biology (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 10 Jul 2025 11:17
Last Modified: 10 Jul 2025 11:17
Status: Published
Publisher: Elsevier
Identification Number: 10.1016/j.ajhg.2022.06.008
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Open Archives Initiative ID (OAI ID):

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