Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction

Congenital microcephaly, with or without additional developmental defects, is a heterogeneous disorder resulting from impaired brain development during early fetal life. The majority of causative genetic variants identified thus far are inherited in an autosomal recessive manner and impact key cellu...

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Detalles Bibliográficos
Autores principales: Carroll, Renée, Kumar, Raman, Shaw, Marie, Slee, Jennie, Kalscheuer, Vera M, Corbett, Mark A, Gecz, Jozef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558180/
https://www.ncbi.nlm.nih.gov/pubmed/28612833
http://dx.doi.org/10.1038/ejhg.2017.97

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