与甲-骨发育异常相关的足部畸形。一项家族性研究及相关特征综述。
Foot deformities associated with onycho-osteodysplasia. A familial study and a review of associated features.
作者信息
Høgh J, Macnicol M F
出版信息
Int Orthop. 1985;9(2):135-8. doi: 10.1007/BF00266956.
PMID:4055176
Abstract
A family, of which thirteen members suffered from hereditary onycho-osteodysplasia (HOOD), is presented. Four of the thirteen patients also had foot deformities, and it is postulated that this anomaly may be a true part of the HOOD syndrome, and not just an incidental finding.
摘要
本文报道了一个家族，该家族中有13名成员患有遗传性甲-骨发育异常（HOOD）。13名患者中有4名还存在足部畸形，据推测这种异常可能是HOOD综合征的一个真正组成部分，而不仅仅是一个偶然发现。
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本文引用的文献
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Further families showing linkage between the ABO and nail-patella loci, with no evidence of heterogeneity.更多家庭显示ABO与指甲-髌骨位点之间存在连锁关系，且无基因异质性证据。
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Hereditary onycho-osteodysplasia (Nail-Patella syndrome). A report of nine kindreds.
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Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.人类ABO血型定位：通过将AK-1基因定位到9q34区域，确定其与Np-1:AK-1连锁群的关系。
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