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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Todt, I; Mazereeuw-Hautier, J; Binder, B; Willems, PJ.
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26
CLIN GENET. 2009; 76(4): 404-408.
Doi: 10.1111/j.1399-0004.2009.01211.x
Web of Science
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- Co-authors Med Uni Graz
- Binder Barbara
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- Abstract:
- The Keratitis-Ichthyosis-Deafness syndrome (KIDS) is an autosomal dominant ectodermal dysplasia characterized by ocular, skin, and ear anomalies, including keratitis, palmoplantar keratoderma, and congenital hearing loss. Most cases are due to mutations in the GJB2 gene encoding connexin 26. The Dandy-Walker malformation (DWM) is a developmental anomaly of the midline of the cerebellum with complete or partial agenesis of the vermis and cystic dilatation of the fourth ventricle. The association of KID syndrome with DWM has been reported a few times, but thought to be coincidental. We report 4 additional patients with KIDS and DWM, supporting the possibility that this is an association and not a coincidental finding. This also suggests that the GJB2 gene may have a role in other cases with DWM of, as yet, unknown etiology.
- Find related publications in this database (Keywords)
- cerebellum
- Dandy-Walker malformation
- GJB2
- KID syndrome