小头畸形与先天性淋巴水肿的显性遗传综合征。
Dominantly inherited syndrome of microcephaly and congenital lymphedema.
作者信息
Leung A K
出版信息
Clin Genet. 1985 Jun;27(6):611-2. doi: 10.1111/j.1399-0004.1985.tb02047.x.
Abstract
A Chinese family is reported in which microcephaly and congenital lymphedema have been observed in at least 4 generations. This combination of symptoms can be presumed to represent a rare but well defined hereditary syndrome transmitted by an autosomal dominant gene.
摘要
据报道，一个中国家庭中至少四代人出现了小头畸形和先天性淋巴水肿。可以推测，这种症状组合代表了一种罕见但定义明确的由常染色体显性基因传递的遗传综合征。
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引用本文的文献
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Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.KIF11 基因突变导致常染色体显性小头畸形，可伴有先天性淋巴水肿和脉络膜视网膜病变。
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2
The swollen leg and primary lymphoedema.腿部肿胀与原发性淋巴水肿。
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