Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)
書誌事項
- 公開日
- 1981-08
- 権利情報
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- http://onlinelibrary.wiley.com/termsAndConditions#vor
- DOI
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- 10.1111/j.1399-0004.1981.tb01821.x
- 公開者
- Wiley
この論文をさがす
説明
<jats:p>A study of 73 patients with the Sanfilippo syndrome (36 patients with Sanfilippo A disease, 23 with Sanfilippo B disease and 14 with Sanfilippo C disease) revealed both intertype and intratype variability. The course of the disease was relatively mild in Sanfilippo B disease and dementia was less severe. Type A showed earlier onset with more severe clinical manifestations and an earlier age at death. Sanfilippo C disease was slightly less severe than Sanfilippo A disease. The intratype variability may be explained in part by differences in genetic and environmental background. In Sanfilippo B disease, genetic heterogeneity is suggested by the observation of a more severe and a mild variant, and this variation may be due to the involvement of different allelic mutations. The intra‐familial variability of the different types was small, but in three families with Sanfilippo B disease intrafamilial variability was evident.</jats:p>
収録刊行物
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- Clinical Genetics
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Clinical Genetics 20 (2), 152-160, 1981-08
Wiley