An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis-Reference-Cited by-同舟云学术

An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis

Published:2020-10-14 Issue:6 Volume:98 Page:628-629
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Errichiello Edoardo¹^ORCID,Arossa Alessia²,Iasci Angela²,Villa Roberta³,Ischia Benedetta⁴,Pavesi Maria Angela⁵,Rizzuti Tommaso⁶,Bedeschi Maria Francesca³,Zuffardi Orsetta¹

Affiliation:

1. Medical Genetics, Department of Molecular Medicine University of Pavia Pavia Italy

2. Obstetrics and Gynecology Fondazione IRCCS Policlinico San Matteo Pavia Italy

3. Medical Genetics Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

4. Fetal Medicine and Surgery Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

5. Pediatric Radiology Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

6. Pathology Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13854

Reference7 articles.

1. TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

2. Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6

3. A divergent Tbx6-related gene and Tbx6 are both required for neural crest and intermediate mesoderm development in Xenopus

4. Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis

5. Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

Cited by 3 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. Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus;BMC Pregnancy and Childbirth;2024-07-01

2. TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome;American Journal of Medical Genetics Part A;2022-09-26

3. Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis;Clinical Genetics;2022-02-09