Article
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.
Clinical genetics - 1 Nov 2022
Kraatari-Tiri Minna, Soikkonen Leila, Myllykoski Matti, 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
Abstract excerpt
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, dysautonomia, epilepsy, eye abnormalities, and an increased tendency to develop respiratory distress during pneumonia. Here, we report six new patients with HIDEA syndrome caused by five...
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