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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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2017
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Article
Online adgang: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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