<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, Elisa Rahikkala, Matti Myllykoski et al.|Clinical Genetics|2022

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