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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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2017
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5420355/
https://ncbi.nlm.nih.gov/pubmed/28475857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.03.010
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