Jansen de Vries syndrome: Report of four new patients and review of the literature
Author:
Funder
Academy of Finland
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference9 articles.
1. De novo truncating mutations in the last and penultimate exons of PPM1D cause an intellectual disability syndrome;Jansen;Am. J. Hum. Genet.,2017
2. Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon;Kuroda;Brain Dev.,2019
3. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability;Lelieveld;Nat. Neurosci.,2016
4. Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome;Li;Mol Genet Genomic Med,2020
5. [Jansen-de Vries syndrome. First case diagnosed in Spain];Martín Fernández-Mayoralas;Neurol Barc Spain,2021
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