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 von 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

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