De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B...

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Bibliografske podrobnosti
izdano v:Cold Spring Harb Mol Case Stud
Main Authors: Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2017
Teme:
Research Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701309/
https://ncbi.nlm.nih.gov/pubmed/29162653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002097
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