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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Опубликовано в: :Eur J Hum Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2017
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Article
Online-ссылка: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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