眼皮肤白化病、普拉德-威利综合征与正常核型的同步性。
Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.
作者信息
Wallis C E, Beighton P H
机构信息
Department of Human Genetics, University of Cape Town Medical School, South Africa.
出版信息
J Med Genet. 1989 May;26(5):337-9. doi: 10.1136/jmg.26.5.337.
Abstract
A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.
摘要
一名患有眼皮肤白化病的中国女孩患有普拉德-威利综合征且核型正常。这种关联强调了在寻找白化病基因位点的过程中对基因组15(q12)区域进行进一步分子研究的重要性。
Zotero 插件