Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping

Abstract Background Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation (ROHHAD) and neuroendocrine tumor (NET) is a very rare condition with an unknown etiology. While various potential causes have been hypothesized, including genetic and paraneoplastic autoimmun...

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Bibliographic Details
Main Authors: N. van Engelen, H. M. van Santen, F. van Dijk, M. M. Kleisman, J. H.M. Merks, A. Y.N. Schouten-van Meeteren, E. J. Kamping, K. Neveling, A. Hoischen, M. C.J. Jongmans, R. P. Kuiper
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
ROHHAD-NET
Whole genome sequencing
Optical genome mapping
Germline
Online Access:https://doi.org/10.1186/s13023-025-03938-3
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