Novel truncating PPM1D mutation in a patient with intellectual disability
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference10 articles.
1. The UCSC Genome Browser database: 2018 update;Casper;Nucleic Acids Res.,2017
2. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis;Isidor;Nat. Genet.,2011
3. De novo truncating mutations in the last and penultimate exons of PPM1D cause an intellectual disability syndrome;Jansen;Am. J. Hum. Genet.,2017
4. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability;Lelieveld;Nat. Neurosci.,2016
5. The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways;Lu;Canc. Metastasis Rev.,2008
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