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Marjolaine Champagne

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Articles

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

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By Mathieu Bergeron, Philippe Dodin, Nada Barakat, Marjolaine Champagne
| Wiley Online Library Verified
1 Introduction Rahman syndrome (OMIM #617537), or HIST1H1E-related neurodevelopmental syndrome, is a rare autosomal-dominant chromatinopathy caused by truncating variants in the C-terminal domain of HIST1H1E. The disorder is characterized by macrocephaly, generalized hypotonia, distinctive craniofacial features, and variable systemic anomalies affecting growth, endocrine, and cardiac function (Burkardt et al. 2019; Ciolfi et al. 2020; Tanabe et al. 2023).
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