A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism
A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism
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DOI：
10.1097/00019605-200009040-00008
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发表时间：
2000-10-01
影响因子：
0.7
通讯作者：
Fryns, JP
中科院分区：
文献类型：
--
作者：
Frints, SGM;De Smet, L;Fryns, JP
Larsen综合征以多发性先天性关节脱位、典型的骨骼缺损和面部畸形为特征。在这篇文章中，我们提出了一个女性患者与不对称拉森综合征。我们推测，在我们的病人的临床特征的不对称分布可能是由后合子体细胞系嵌合的显性基因突变。Clin Dysmorphol 9：273-276（C）2000 Lippincott威廉姆斯和威尔金斯。
Larsen syndrome is characterized by multiple congenital joint dislocations, typical skeletal defects and facial dysmorphism. In this article, we present a female patient with asymmetric Larsen syndrome. We hypothesise that the asymmetric distribution of clinical features in our patient is likely caused by post-zygotic somatic cell-line mosaicism of a dominant gene mutation. Clin Dysmorphol 9: 273-276 (C) 2000 Lippincott Williams & Wilkins.