Publication: Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
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Wang, M. S., Schinzel, A., Kotzot, D., Balmer, D., Casey, R., Chodirker, B. N., Gyftodimou, J., Petersen, M. B., Lopez-Rangel, E., & Robinson, W. P. (1999). Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. American Journal of Medical Genetics, 86, 34–43. https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<34::aid-ajmg7>3.0.co;2-4
Abstract
Abstract
Abstract
Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90–95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investigated for associations with clinical outcome. In an analysis of 85 confirmed deletion cases, no statistically significant associations were found after Bonferroni's correction for multiple pairwise comparisons. Furthermore, the present data do not
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- Wang, Michael S
- Schinzel, Albert
- Kotzot, Dieter
- Balmer, Damina
- Casey, Robin
- Chodirker, Bernie N
- Gyftodimou, Jolanda
- Petersen, Michael B
- Robinson, Wendy P
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Wang, M. S., Schinzel, A., Kotzot, D., Balmer, D., Casey, R., Chodirker, B. N., Gyftodimou, J., Petersen, M. B., Lopez-Rangel, E., & Robinson, W. P. (1999). Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. American Journal of Medical Genetics, 86, 34–43. https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<34::aid-ajmg7>3.0.co;2-4
