Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report

BACKGROUND: Pontocerebellar hypoplasia (PCH) is increasingly known as a degenerative disease rather than simple “hypoplasia”. At least 21 disease-causing genes have been identified for PCH so far. Because PCH is very heterogenous, prognostic prediction based solely on clinical or radiologic findings...

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Detalles Bibliográficos
Autores principales: Yamada, Mamiko, Suzuki, Hisato, Adachi, Hiroyuki, Noguchi, Atsuko, Miya, Fuyuki, Takahashi, Tsutomu, Kosaki, Kenjiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750809/
https://www.ncbi.nlm.nih.gov/pubmed/35012485
http://dx.doi.org/10.1186/s12883-021-02540-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750809/
https://www.ncbi.nlm.nih.gov/pubmed/35012485
http://dx.doi.org/10.1186/s12883-021-02540-x

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