HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome

Harvengt et al. (Wed,) studied this question.

www.synapsesocial.com/papers/6a03cf7419dc53b9d639270d — DOI: https://doi.org/10.3389/fgene.2023.1137767

Also consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. <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· 2022 · 9 citations
2. Mitochondrial Dynamics and Hypothalamic Regulation of Metabolism· 2018 · 43 citations
3. Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood· 2007 · 234 citations
4. HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant· 2022 · 7 citations
5. An Endoplasmic Reticulum Transmembrane Prolyl 4-Hydroxylase Is Induced by Hypoxia and Acts on Hypoxia-inducible Factor α· 2007 · 144 citations