Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis-Reference-Cited by-同舟云学术

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Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis

Published:2022-02-09 Issue:4 Volume:101 Page:476-478
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Linnenkamp Bianca¹,Girardi Raissa²,Rocha Letícia²^ORCID,Yamamoto Guilherme¹²,Ceroni José Ricardo¹³,Mendes Antonia Elisabeth Cristhina¹,Honjo Rachel¹,Oliveira Luiz Antônio¹,Amemiya Raphael Bruno⁴,Quaio Caio¹³^ORCID,Oliveira Filho João Bosco³,Kim Chong Ae¹,Bertola Débora¹²^ORCID

Affiliation:

1. Hospital das Clínicas Universidade de São Paulo São Paulo Brazil

2. Instituto de Biociências Universidade de São Paulo São Paulo Brazil

3. Laboratório Clínico Hospital Israelita Albert Einstein São Paulo Brazil

4. Laboratório Genera/DASA São Paulo Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Ministério da Saúde

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14118

Reference5 articles.

1. TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

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

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

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

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