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, ...