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

Clin Genet. 2022 Apr;101(4):476-478. doi: 10.1111/cge.14118. Epub 2022 Feb 9.

Authors

Bianca Linnenkamp¹, Raissa Girardi², Letícia Rocha², Guilherme Yamamoto^{1

2}, José Ricardo Ceroni^{1

3}, Antonia Elisabeth Cristhina Mendes¹, Rachel Honjo¹, Luiz Antônio Oliveira¹, Raphael Bruno Amemiya⁴, Caio Quaio^{1

3}, João Bosco de Oliveira Filho³, Chong Ae Kim¹, Débora Bertola^{1

2}

Affiliations

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.

PMID: 35137400
DOI: 10.1111/cge.14118

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple*
Bone Diseases, Developmental*
Brazil / epidemiology
Dysostoses*
Hernia, Diaphragmatic*
Humans
Spine / diagnostic imaging

Supplementary concepts

Jarcho-Levin syndrome

Grants and funding