<scp>HIDEA</scp> syndrome is caused by biallelic, pathogenic, rare or founder <i>P4HTM</i> variants impacting the active site or the overall stability of the <scp>P4H‐TM</scp> protein
Minna Kraatari‐Tiri(Oulu University Hospital), Elisa Rahikkala(Oulu University Hospital), Javier Martini(Centogene (Germany)), Mehran Beiraghi Toosi(Mashhad University of Medical Sciences), Christel Depienne(Essen University Hospital), Kornélia Tripolszki(University of Szeged), Jonna Komulainen‐Ebrahim(Oulu University Hospital), Johanna Uusimaa(Oulu University Hospital), Hanna Kallankari(Oulu University Hospital), Yalda Jamshidi(St George's, University of London), Matti Myllykoski(University of Oulu), Ehsan Ghayoor Karimiani(St George's, University of London), Cyril Mignot(Sorbonne Université), Zahra Alsahlawi(Salmaniya Medical Complex), Aida M. Bertoli‐Avella(Centogene (Germany)), Leila Soikkonen(Oulu University Hospital), Peter Bauer(Centogene (Germany)), Marie‐Christine Nouguès(Sorbonne Université), Peppi Koivunen(University of Oulu), Boris Keren(Sorbonne Université), Antonio Romito(Centogene (Germany)), Christopher J. Carroll(St George's, University of London)
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