A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome
Article
Hehr, U (2006) A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. Journal of Medical Genetics 43 (6), pp. 541-544.Alternative links to fulltext
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Details
| Item type | Article | ||||
| Journal or Publication Title | Journal of Medical Genetics | ||||
| Publisher | B M J PUBLISHING GROUP | ||||
| Place of Publication | LONDON | ||||
| Volume | 43 | ||||
| Number of Issue or Book Chapter | 6 | ||||
| Page Range | pp. 541-544 | ||||
| Date | 2006 | ||||
| Date of publication | 19 Dec 2024 14:37 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie | ||||
| Identification Number |
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| Keywords | MOSAIC MUTATIONS; GENE CAUSE; FLN1 GENE; LOCUS; PHENOTYPE; MIGRATION; EPILEPSY; NEURONS; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 70010 |
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