MED23-associated Intellectual Disability in a Non-consanguineous Family

Intellectual disability (ID) is a heterogeneous condition arising from a variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report two brothers in a non-consanguineous family with novel compound heterozygous, disease-segregating mut...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Trehan, Aditi, Brady, Jacqueline M., Maduro, Valerie, Bone, William, Huang, Yan, Golas, Gretchen A., Kane, Megan, Lee, Paul R., Thurm, Audrey, Gropman, Andrea L., Paul, Scott M., Vezina, Gilbert, Markello, Thomas C., Gahl, William A., Boerkoel, Cornelius F., Tifft, Cynthia J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5671761/
https://ncbi.nlm.nih.gov/pubmed/25845469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37047
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