A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature-Reference-Cited by-同舟云学术

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A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature

Published:2017-05-04 Issue:6 Volume:38 Page:590-592
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Graziano Claudio¹,Gusson Elena²,Severi Giulia¹,Isidori Federica¹,Wischmeijer Anita³,Brugnara Milena⁴,Seri Marco¹,Rossi Cesare¹

Affiliation:

1. Medical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy

2. University Eye Clinic, Pediatric Ophtalmology Service, Department of Neurosciences, Biomedicine and Movement, University of Verona, Verona, Italy

3. Clinical Genetics Service, Department of Pediatrics, Regional Hospital of South Tyrol, Bolzano, Italy

4. Department of Pediatrics, University of Verona, Verona, Italy

Funder

Ministero della Salute

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2017.1318927

Reference13 articles.

1. SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

2. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

3. Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

4. Control of Pre-mRNA Splicing by the General Splicing Factors PUF60 and U2AF65

Cited by 16 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. Identification of a de novo PUF60 variant associated with craniofacial microsomia;American Journal of Medical Genetics Part A;2024-04-22

2. Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus;Gene;2024-03

3. Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders;International Journal of Molecular Sciences;2024-02-08

4. Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature;European Journal of Human Genetics;2024-01-25

5. PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants;American Journal of Medical Genetics Part A;2023-06-11

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