Koolen Syndrome

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Koolen-De Vries Syndrome Foundation

Wilmington, 美国 中的 协会/组织
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Koolen-de Vries Syndrome Foundation maintains a confidential database of KdVS families from around the world. This database allows us to help …

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常见问题解答

问:
Are there any known differences between the presentation of the microdeletion and the KANSL1 mutation at this time (2015)?
答:
KdVS caused by a mutation in the KANSL1 gene is very rare. Based on relatively small numbers there doesn’t seem to be a difference between the presentation of the...
答:
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数据来源: BusinessWebsite
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