Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome-Reference-Cited by-同舟云学术

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Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome

Published:2020-01-08 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Li Zhuoguang¹^ORCID,Du Caiqi¹,Zhang Cai¹,Zhang Mini¹,Ying Yanqin¹,Liang Yan¹,Luo Xiaoping¹

Affiliation:

1. Department of Pediatrics Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1120

Reference11 articles.

1. The protein phosphatase 2C (PP2C) superfamily: Detection of bacterial homologues

2. THE STRUCTURE AND REGULATION OF PROTEIN PHOSPHATASES

3. An anatomically comprehensive atlas of the adult human brain transcriptome

4. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

5. Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint

Cited by 4 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

3. Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review;Journal of the Formosan Medical Association;2022-04

4. Síndrome de Jansen-de Vries. Primer caso diagnosticado en España;Neurología;2021-05

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