Rahikkala, Elisa
Myllykoski, Matti
Hinttala, Reetta
Vieira, Päivi
Nayebzadeh, Naemeh
Weiss, Simone
Plomp, Astrid S.
Bittner, Reginald E.
Kurki, Mitja I.
Kuismin, Outi
Lewis, Andrea M.
Väisänen, Marja-Leena
Kokkonen, Hannaleena
Westermann, Jonne
Bernert, Günther
Tuominen, Hannu
Palotie, Aarno
Aaltonen, Lauri
Yang, Yaping
Potocki, Lorraine
Moilanen, Jukka
van Koningsbruggen, Silvana
Wang, Xia
Schmidt, Wolfgang M.
Koivunen, Peppi
Uusimaa, Johanna
Funding for this research was provided by:
Academy of Finland (266719 and 308009)
Sigrid Juséliuksen Säätiö
Emil Aaltosen Säätiö
Jane ja Aatos Erkon Säätiö
This article is maintained by: Elsevier
Article Title: Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-019-0503-4
Content Type: article
Copyright: © 2019, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics