TY  -  
T1  - Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) 
SN  -  /  
UR  - http://hdl.handle.net/10138/306749 
T3  -  
A1  - Rahikkala, Elisa; Myllykoski, Matti; Hinttala, Reetta; Vieira, Paivi; 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, Gunther; Tuominen, Hannu; Palotie, Aarno; Aaltonen, Lauri; Yang, Yaping; Potocki, Lorraine; Moilanen, Jukka; van Koningsbruggen, Silvana; Wang, Xia; Schmidt, Wolfgang M.; Koivunen, Peppi; Uusimaa, Johanna 
A2  -  
PB  -  
Y1  - 2019 
LA  - eng 
AB  - Purpose: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase (TKT), transmembrane prolyl 4-hydroxylase (P4HTM), and ubiquitin specific peptidase 4 (USP4). However, the causative gene remained elusive. Methods: International collaboratio... 
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IS  -  
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KW  - P4HTM; exome sequencing; HIDEA syndrome; intellectual disability; hypoventilation; TRANSMEMBRANE PROLYL 4-HYDROXYLASE; PHD2 MUTATION; HYPOXIA; ERYTHROCYTOSIS; DEFECTS; ENZYMES; 3111 Biomedicine; 1184 Genetics, developmental biology, physiology 
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ER  -