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Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature
- Source :
- Clinical Dysmorphology. 29:217-223
- Publication Year :
- 2020
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2020.
- Subjects :
- Male
Genotype
Chromosomal Proteins, Non-Histone
media_common.quotation_subject
Nonsense
MEDLINE
Cell Cycle Proteins
SMC1A
Bioinformatics
Pathology and Forensic Medicine
Cerebellar Diseases
Humans
Medicine
Genetic Predisposition to Disease
Child
Alleles
Genetic Association Studies
Genetics (clinical)
media_common
business.industry
Facies
Electroencephalography
General Medicine
Magnetic Resonance Imaging
Phenotype
Codon, Nonsense
Pediatrics, Perinatology and Child Health
Cerebellar atrophy
Atrophy
Anatomy
business
Subjects
Details
- ISSN :
- 09628827
- Volume :
- 29
- Database :
- OpenAIRE
- Journal :
- Clinical Dysmorphology
- Accession number :
- edsair.doi.dedup.....3928ee3b8a57d2a26de0f111e761ca78
- Full Text :
- https://doi.org/10.1097/mcd.0000000000000326