Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis

The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. So far, more than 20 cases of 2p15p16.1 microdeletion syndrome have been reported in the literature; however,...

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Udgivet i:JCI Insight
Main Authors: Bagheri, Hani, Badduke, Chansonette, Qiao, Ying, Colnaghi, Rita, Abramowicz, Iga, Alcantara, Diana, Dunham, Christopher, Wen, Jiadi, Wildin, Robert S., Nowaczyk, Malgorzata J.M., Eichmeyer, Jennifer, Lehman, Anna, Maranda, Bruno, Martell, Sally, Shan, Xianghong, Lewis, Suzanne M.E., O’Driscoll, Mark, Gregory-Evans, Cheryl Y., Rajcan-Separovic, Evica
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2016
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5033885/
https://ncbi.nlm.nih.gov/pubmed/27699255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.85461
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