Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

Non-syndromal X-linked intellectual disability (NS-XLID) represents a broad group of clinical disorders in which ID is the only clinically consistent manifestation. Although in many cases either chromosomal linkage data or knowledge of the >100 existing XLID genes has assisted mutation discovery,...

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Detalles Bibliográficos
Autores principales: Long, Philip, May, Melanie M., James, Victoria M., Grannò, Simone, Johnson, John P., Tarpey, Patrick, Stevenson, Roger E., Harvey, Kirsten, Schwartz, Charles E., Harvey, Robert J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719118/
https://www.ncbi.nlm.nih.gov/pubmed/26834553
http://dx.doi.org/10.3389/fnmol.2015.00083

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