由于KIF11基因的新突变导致的常染色体显性小头畸形伴先天性淋巴水肿和脉络膜视网膜病变。 - Suppr

Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.

作者信息

Mears Katrina, Bakall Benjamin, Harney Lisa A, Penticoff Jessica A, Stone Edwin M

机构信息

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City3Howard Hughes Medical Institute, University of Iowa, Iowa City.

出版信息

JAMA Ophthalmol. 2015 Jun;133(6):720-1. doi: 10.1001/jamaophthalmol.2015.199.

DOI:10.1001/jamaophthalmol.2015.199

PMID:25764055

Abstract

摘要

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Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.

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Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.

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