Dysmyelination of the Cerebral White matter with Microdeletion at 6p25.
dc.contributor.author | Kapoor, Seema | |
dc.contributor.author | Mukherjee, Sharmila Banerjee | |
dc.contributor.author | Shroff, Daraius | |
dc.contributor.author | Arora, Ritu | |
dc.date.accessioned | 2015-12-24T04:13:57Z | |
dc.date.available | 2015-12-24T04:13:57Z | |
dc.date.issued | 2011-09 | |
dc.description.abstract | A 6-year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld- Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1 and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has been infrequently described earlier in patients with 6p25 deletion. | en_US |
dc.identifier.citation | Kapoor Seema, Mukherjee Sharmila Banerjee, Shroff Daraius, Arora Ritu. Dysmyelination of the Cerebral White matter with Microdeletion at 6p25. Indian Pediatrics. 2011 Sptember; 48(9): 727-729. | en_US |
dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/168960 | |
dc.language.iso | en | en_US |
dc.source.uri | https://www.indianpediatrics.net/sep2011/sep-727-729.htm | en_US |
dc.subject | 6p25 microdeletion | en_US |
dc.subject | Axenfeld-Rieger anomaly | en_US |
dc.subject | Dysmyelination | en_US |
dc.title | Dysmyelination of the Cerebral White matter with Microdeletion at 6p25. | en_US |
dc.type | Article | en_US |