Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201797.pdf
Reference20 articles.
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2. Gilmore EC, Walsh CA : Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip Rev Dev Biol 2013; 2: 461–478.
3. Zhang X, Chen MH, Wu X et al: Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. Cell 2016; 166: 1147–1162, e1115.
4. Hockey A, Crowhurst J, Cullity G : Microcephaly, holoprosencephaly, hypokinesia—second report of a new syndrome. Prenat Diagn 1988; 8: 683–686.
5. Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J : A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014; 46: 310–315.
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