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双侧鳃裂窦伴宫内及出生后生长发育迟缓、早衰和特殊面容:一种显性遗传的新综合征。

Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.

作者信息

Lee W K, Root A W, Fenske N

出版信息

Am J Med Genet. 1982 Mar;11(3):345-52. doi: 10.1002/ajmg.1320110311.

Abstract

A mother and son with bilateral branchial sinuses, intrauterine and postnatal growth retardation, unusual facial appearance, and premature aging in the mother are reported. No other members of the family are similarly affected. No hormonal or systemic cause of growth retardation was identified. Chromosomal studies with G-banding were normal. It is suggested that this syndrome is a dominant trait, the mother being the initial mutant.

摘要

报告了一对患有双侧鳃裂窦、宫内和出生后生长发育迟缓、面部外观异常以及母亲过早衰老的母子。家族中没有其他成员受到类似影响。未发现生长发育迟缓的激素或全身性原因。G显带染色体研究结果正常。提示该综合征为显性性状,母亲为初始突变者。

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