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Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.
- Source :
-
Journal of applied genetics [J Appl Genet] 2012 May; Vol. 53 (2), pp. 189-91. - Publication Year :
- 2012
- Subjects :
- Child, Preschool
Exons
Genes, Recessive
Homozygote
Humans
Magnetic Resonance Imaging
Male
Malformations of Cortical Development complications
Malformations of Cortical Development pathology
Megalencephaly complications
Megalencephaly pathology
Nijmegen Breakage Syndrome complications
Nijmegen Breakage Syndrome pathology
Polymerase Chain Reaction
Sequence Deletion
Spine pathology
Cell Cycle Proteins genetics
Malformations of Cortical Development genetics
Megalencephaly genetics
Nijmegen Breakage Syndrome genetics
Nuclear Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2190-3883
- Volume :
- 53
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of applied genetics
- Publication Type :
- Academic Journal
- Accession number :
- 22293976
- Full Text :
- https://doi.org/10.1007/s13353-012-0084-2