遗传学与瑞特综合征。

Genetics and Rett syndrome.

作者信息

Anvret M, Clarke A

机构信息

Dept. of Clinical Genetics and Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden.

出版信息

Eur Child Adolesc Psychiatry. 1997;6 Suppl 1:89-90.

PMID:9452928

Abstract

Rett syndrome is a disease of neurological development. First reported 30 years ago in 1966, its biological and genetic basis remain obscure. It is commonly thought of as an X-linked dominant disorder lethal to hemizygous males. This paper presents the latest genetic findings reported at the Pre-congress Genetic Seminar.

摘要

瑞特综合征是一种神经发育疾病。1966年首次报道，距今已有30年，但其生物学和遗传学基础仍不清楚。它通常被认为是一种对半合子男性致死的X连锁显性疾病。本文介绍了在会前遗传学研讨会上报告的最新遗传学研究结果。