First report of tethered cord syndrome in a patient with Verheij syndrome-Reference-Cited by-同舟云学术

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First report of tethered cord syndrome in a patient with Verheij syndrome

Published:2022-09-22 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kocaaga A.¹^ORCID,Yimenicioglu S.²^ORCID,Atikel Y. Özdemir³^ORCID,Yavuz O. Özkale⁴^ORCID

Affiliation:

1. Department of Medical Genetics, Eskisehir City Hospital, Eskişehir, Turkey

2. Department of Pediatric Neurology, Eskisehir City Hospital, Eskişehir, Turkey

3. Department of Pediatric Nephrology, Eskisehir City Hospital, Eskişehir, Turkey

4. Department of Pediatric Radiology, Eskisehir City Hospital, Eskişehir, Turkey

Funder

no funding

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2121968

Reference14 articles.

1. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

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

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

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

5. Protein elongation variant of PUF60 : Milder phenotypic end of the Verheij syndrome

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. Tethered cord syndrome from pediatric and adult perspectives: a comprehensive systematic review of 6135 cases;Neurosurgical Focus;2024-06

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

3. 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

4. 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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