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.
Marie-Christine Nougues, Elisa Rahikkala, Peppi Koivunen, Aida M Bertoli-Avella, Johanna Uusimaa, Peter Bauer, Kornelia Tripolszki, Christopher J Carroll, Mehran B Toosi, Javier Martini, Antonio Romito, Zahra Alsahlawi, Boris Keren, Christel Depienne, Cyril Mignot, Hanna Kallankari, Jonna Komulainen-Ebrahim, Ehsan G Karimiani, Yalda Jamshidi, Matti Myllykoski, Leila Soikkonen, Minna Kraatari-Tiri
Clinical genetics 2022;102(5):444-450