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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

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