No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

BACKGROUND: Typical Williams-Beuren syndrome (WBS) is commonly caused by a ~1.5 Mb - ~1.8 Mb heterozygous deletion of contiguous genes at chromosome region 7q11.23. The majority of WBS cases occurs sporadically but few familial cases of autosomal dominant inheritance have been reported. Recent data...

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Detalles Bibliográficos
Autores principales: Frohnauer, Judith, Caliebe, Almuth, Gesk, Stefan, Partsch, Carl-Joachim, Siebert, Reiner, Pankau, Rainer, Jenderny, Jutta
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2993725/
https://www.ncbi.nlm.nih.gov/pubmed/21054846
http://dx.doi.org/10.1186/1755-8166-3-21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2993725/
https://www.ncbi.nlm.nih.gov/pubmed/21054846
http://dx.doi.org/10.1186/1755-8166-3-21

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