Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be asso...

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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2017
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5567153/
https://ncbi.nlm.nih.gov/pubmed/28513610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.86
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