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Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11
Journal article   Peer reviewed

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

Katrina Mears, Benjamin Bakall, Lisa A Harney, Jessica A Penticoff and Edwin M Stone
JAMA ophthalmology, Vol.133(6), pp.720-721
06/2015
DOI: 10.1001/jamaophthalmol.2015.199
PMID: 25764055

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Abstract

Retinal Dysplasia - diagnosis Microcephaly - genetics Tomography, Optical Coherence Humans Microcephaly - diagnosis Lymphedema - diagnosis Male Mutation - genetics Visual Acuity Lymphedema - genetics Retinal Dysplasia - genetics Gene Deletion Facies Kinesin - genetics Child Fluorescein Angiography

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