Rare Copy Number Variants Are a Common Cause of Short Stature

Human growth has an estimated heritability of about 80%–90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contr...

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Autori principali: Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B., Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2013
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3597495/
https://ncbi.nlm.nih.gov/pubmed/23516380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003365
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