Browsing Bergen Open Research Archive by Author "Rahikkala, Elisa"
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HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein
Kraatari-Tiri, Minna; Soikkonen, Leila; Myllykoski, Matti Aukusti; Jamshidi, Yalda; Karimiani, Ehsan G.; Komulainen-Ebrahim, Jonna; Kallankari, Hanna; Mignot, Cyril; Depienne, Christel; Keren, Boris; Nougues, Marie-Christine; Alsahlawi, Zahra; Romito, Antonio; Martini, Javier; Toosi, Mehran B.; Carroll, Christopher J.; Tripolszki, Kornelia; Bauer, Peter; Uusimaa, Johanna; Bertoli-Avella, Aida M.; Koivunen, Peppi; Rahikkala, Elisa (Journal article; Peer reviewed, 2022)HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, ...