Review paper
TUBB4A de novo mutations cause isolated hypomyelination
Abstract
We present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations.Patients in 2 large institutional review board-approved leukodystrophy bioregistries at Children's National Medical Center and Montreal Children's Hospital with similar MRI features had whole-exome sequencing performed. MRIs and clinical information were reviewed.Five patients who presented with...
Paper Details
Title
TUBB4A de novo mutations cause isolated hypomyelination
Published Date
Sep 2, 2014
Journal
Volume
83
Issue
10
Pages
898 - 902
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