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Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome

Wolf–Hirschhorn syndrome (WHS) is a complex genetic disorder caused by the loss of genomic material from the short arm of chromosome 4. Genotype–phenotype correlation studies indicated that the loss of genes within 4p16.3 is necessary for expression of the core features of the phenotype. Within this...

詳細記述

保存先:
書誌詳細
主要な著者: Andersen, Erica F, Carey, John C, Earl, Dawn L, Corzo, Deyanira, Suttie, Michael, Hammond, Peter, South, Sarah T
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3953918/
https://ncbi.nlm.nih.gov/pubmed/23963300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.192
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