Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?

Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a rare, life-threatening, pediatric disorder of unknown etiology, whose diagnosis is made difficult by poor knowledge of clinical manifestation, and lack of any confirmatory tests. Children wit...

Descripción completa

Detalles Bibliográficos
Autores principales: Grossi, A., Rusmini, M., Cusano, R., Massidda, M., Santamaria, G., Napoli, F., Angelelli, A., Fava, D., Uva, P., Ceccherini, I., Maghnie, M.
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/PMC10440434/
https://www.ncbi.nlm.nih.gov/pubmed/37609037
http://dx.doi.org/10.3389/fgene.2023.1031074

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10440434/
https://www.ncbi.nlm.nih.gov/pubmed/37609037
http://dx.doi.org/10.3389/fgene.2023.1031074

Ejemplares similares