期刊
CLINICAL DYSMORPHOLOGY
卷 9, 期 4, 页码 273-276出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00019605-200009040-00008
关键词
asymmetric Larsen syndrome; somatic gene mosaicism
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.
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