具有独特表型和正常核型的短指骨点状软骨发育不良。
Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype.
作者信息
Zizka J, Charvat J, Baxova A, Balicek P, Kozlowski K
机构信息
University Hospital, Hradec Kralova, Czech Republic.
出版信息
Am J Med Genet. 1998 Mar 19;76(3):213-6. doi: 10.1002/(sici)1096-8628(19980319)76:3<213::aid-ajmg3>3.0.co;2-r.
Abstract
We present two sibs with a distinctive phenotype and with stippled calcifications of the tarsal bones and sacro-coccygeal spine. They represent an apparently "new" form of chondrodysplasia punctata.
摘要
我们报告了两名具有独特表型且跗骨和骶尾椎有斑点状钙化的同胞。他们代表了一种明显“新”的点状软骨发育不良形式。
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