Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
双等位基因功能丧失的 P4HTM 基因变异会导致肌张力低下、通气不足、智力障碍、自主神经功能障碍、癫痫和眼部异常（HIDEA 综合征）。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-019-0503-4
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
