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勘误：脊柱眼病综合征：一种描述了新生儿表型的新型变异体。

Corrigendum: Spondyloocular syndrome: A novel variant with description of the neonatal phenotype.

作者信息

Doddato Gabriella, Fabbiani Alessandra, Fallerini Chiara, Bruttini Mirella, Hadjistilianou Theodora, Landi Martino, Coradeschi Caterina, Grosso Salvatore, Tomasini Barbara, Mencarelli Maria Antonietta, Renieri Alessandra, Ariani Francesca

机构信息

Medical Genetics, University of Siena, Siena, Tuscany, Italy.

Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Tuscany, Italy.

出版信息

Front Genet. 2023 Jan 25;14:1143795. doi: 10.3389/fgene.2023.1143795. eCollection 2023.

DOI:10.3389/fgene.2023.1143795
PMID:36761000
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9905838/
Abstract

[This corrects the article DOI: 10.3389/fgene.2021.761264.].

摘要

[本文更正了文章的数字对象标识符：10.3389/fgene.2021.761264。]

相似文献

[1]
Corrigendum: Spondyloocular syndrome: A novel variant with description of the neonatal phenotype.

Front Genet. 2023-1-25

[2]
Spondyloocular Syndrome: A Novel Variant with Description of the Neonatal Phenotype.

Front Genet. 2021-12-3

[3]
A Novel Homozygous Frameshift Variant in Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.

Front Genet. 2019-3-5

[4]
Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Clin Genet. 2018-2-20

[5]
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation.

Genes (Basel). 2023-2-15

[6]
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

J Bone Miner Res. 2016-8

[7]
An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation.

Oman J Ophthalmol. 2022-11-2

[8]
Intrafamilial variability of XYLT2-related spondyloocular syndrome.

Eur J Med Genet. 2019-11

[9]
Two novel mutations in XYLT2 cause spondyloocular syndrome.

Am J Med Genet A. 2017-12

[10]
Spondyloocular Syndrome: First Case of Rare Osseous and Ocular Syndrome from India with Novel Mutation and Expanded Phenotypic Spectrum.

Calcif Tissue Int. 2024-8

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Xylosyltransferase-Deficiency in Human Dermal Fibroblasts Induces Compensatory Myofibroblast Differentiation and Long-Term ECM Reduction.

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