Clinical findings and structural analysis involving a patient with a novel KLHL15 variant
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference6 articles.
1. Prevalence and architecture of de novo mutations in developmental disorders;Nature,2017
2. Cullin3-KLHL15 ubiquitin ligase mediates CtIP protein turnover to fine-tune DNA-end resection;Ferretti;Nat. Commun.,2016
3. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes;Hu;Mol. Psychiatr.,2016
4. Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease;Karaca;Neuron,2015
5. Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes;Mignon-Ravix;Am. J. Med. Genet.,2014
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1. X-linked intellectual disability related to a novel variant of KLHL15;Human Genome Variation;2023-07-14
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