Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disability (OGID). We identified a causal mutation in 1 of 14...

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Detalles Bibliográficos
Autores principales: Tatton-Brown, Katrina, Loveday, Chey, Yost, Shawn, Clarke, Matthew, Ramsay, Emma, Zachariou, Anna, Elliott, Anna, Wylie, Harriet, Ardissone, Anna, Rittinger, Olaf, Stewart, Fiona, Temple, I. Karen, Cole, Trevor, Mahamdallie, Shazia, Seal, Sheila, Ruark, Elise, Rahman, Nazneen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420355/
https://www.ncbi.nlm.nih.gov/pubmed/28475857
http://dx.doi.org/10.1016/j.ajhg.2017.03.010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420355/
https://www.ncbi.nlm.nih.gov/pubmed/28475857
http://dx.doi.org/10.1016/j.ajhg.2017.03.010

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