A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
Author:
Funder
Ullevål University Hospital Research Fund (VIRUUS)
Anders Jahres fond til vitenskapens fremme
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference25 articles.
1. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report;Bottillo;BMC Res. Notes,2013
2. A mosaic 2q24.2 deletion narrows the critical region to a 0.4Mb interval that includes TBR1, TANK, and PSMD14;Burrage;Am. J. Med. Genet. A,2013
3. Knockdown of human deubiquitinase PSMD14 induces cell cycle arrest and senescence;Byrne;Exp. Cell Res.,2010
4. Array-CGH detection of a de novo 2.8Mb deletion in 2q24.2–>q24.3 in a girl with autistic features and developmental delay;Chen;Eur. J. Med. Genet.,2010
5. The mouse fidgetin gene defines a new role for AAA family proteins in mammalian development;Cox;Nat. Genet.,2000
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