Article
A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?
Neuropediatrics - 1 Jun 2012
Yalcinkaya Cengiz, Erturk Ozdem, Tuysuz Beyhan, Yesil Gozde, Verbeke Jonathan I M L, Keyser Britta, Stuhrmann Manfred, Steinemann Doris, Sistermans Erik A, van der Knaap Marjo S
Abstract excerpt
In recent years, several new white matter diseases have been identified based on magnetic resonance imaging and clinical findings. For most newly defined disorders the genetic basis has been identified. However, there is still a large group of patients without a specific diagnosis. Hypomyelinating leukodystrophies are the largest group among them. In some disorders characterized by hypomyelination only central...
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