Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.
Mamiko YamadaHisato SuzukiHiroyuki AdachiAtsuko NoguchiFuyuki MiyaTsutomu TakahashiKenjiro KosakiPublished in: BMC neurology (2022)
The genomic analysis was instrumental and essential to solving the enigma of the unexplained neonatal deaths of these two siblings and to provide accurate genetic counseling.
Keyphrases
- intellectual disability
- computed tomography
- genome wide
- image quality
- high resolution
- dual energy
- positron emission tomography
- magnetic resonance imaging
- autism spectrum disorder
- copy number
- dna methylation
- hiv testing
- liver failure
- human immunodeficiency virus
- magnetic resonance
- men who have sex with men
- hepatitis b virus
- pet ct