Síndrome de Jansen-de Vries. Primer caso diagnosticado en España
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical)
Reference5 articles.
1. Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome;Li;Mol Genet Genomic Med,2020
2. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome;Jansen;Am J Hum Genet,2017
3. Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon;Kuroda;Brain Dev,2019
4. Novel truncating PPM1D mutation in a patient with intellectual disability;Porrmann;Eur J Med Genet,2019
5. Sexually inappropriate behaviors in seriously mentally ill children and adolescents;Adams;Child Abuse Negl,1995
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Jansen de Vries syndrome: Report of four new patients and review of the literature;European Journal of Medical Genetics;2023-08
2. Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families;American Journal of Medical Genetics Part A;2023-05-14
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