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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Cold Spring Harb Mol Case Stud
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Cold Spring Harbor Laboratory Press 2017
Gaiak:
Research Report
Sarrera elektronikoa: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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