Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa-Reference-Cited by-同舟云学术

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Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

Published:2020-12-04 Issue:1 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Cinquina Valeria¹^ORCID,Ciaccio Claudia²,Venturini Marina³,Masson Riccardo²,Ritelli Marco¹^ORCID,Colombi Marina¹^ORCID

Affiliation:

1. Division of Biology and Genetics Department of Molecular and Translational Medicine University of Brescia Brescia Italy

2. Developmental Neurology Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

3. Division of Dermatology Department of Clinical and Experimental Sciences Spedali Civili University Hospital Brescia Brescia Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1562

Reference36 articles.

1. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

2. 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases

3. Predicting the Functional Effect of Amino Acid Substitutions and Indels

4. Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

5. Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST‐Indel)

Cited by 12 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. Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo;Frontiers in Pediatrics;2024-03-28

2. Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India;Case Reports in Genetics;2024-01

3. Heterozygous c.175C>T variant in PURA gene causes severe developmental delay;Clinical Case Reports;2023-09

4. A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature;International Journal of Developmental Neuroscience;2023-05-19

5. PurA sensitizes cells to toxicity induced by oxidative stress;NeuroImmune Pharmacology and Therapeutics;2023-03-23

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