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Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination.
- Source :
-
Congenital anomalies [Congenit Anom (Kyoto)] 2020 May; Vol. 60 (3), pp. 94-96. Date of Electronic Publication: 2019 Jul 29. - Publication Year :
- 2020
- Subjects :
- Amino Acid Transport Systems, Acidic genetics
Antiporters genetics
Child
Female
Hereditary Central Nervous System Demyelinating Diseases genetics
Humans
Mitochondrial Diseases genetics
Prevalence
Psychomotor Disorders genetics
Exome Sequencing
Amino Acid Transport Systems, Acidic deficiency
Antiporters deficiency
Chromosome Deletion
Chromosomes, Human, Pair 18 genetics
DNA Copy Number Variations
Exome genetics
Hereditary Central Nervous System Demyelinating Diseases pathology
Mitochondrial Diseases pathology
Mosaicism
Psychomotor Disorders pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1741-4520
- Volume :
- 60
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Congenital anomalies
- Publication Type :
- Academic Journal
- Accession number :
- 31328296
- Full Text :
- https://doi.org/10.1111/cga.12351