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

Context: ROHHAD syndrome presents a significant resemblance to HIDEA syndrome. The latter is caused by biallelic loss-of-function variants in the P4HTM gene and encompasses hypotonia, intellectual disabilities, eye abnormalities, hypoventilation, and dysautonomia. We report the first patient identif...

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Detalles Bibliográficos
Autores principales: Harvengt, J., Lumaka, A., Fasquelle, C., Caberg, J. H., Mastouri, M., Janssen, A., Palmeira, L., Bours, V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073441/
https://www.ncbi.nlm.nih.gov/pubmed/37035730
http://dx.doi.org/10.3389/fgene.2023.1137767

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073441/
https://www.ncbi.nlm.nih.gov/pubmed/37035730
http://dx.doi.org/10.3389/fgene.2023.1137767

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