Associated Papers
Novel Splice Variant in the HES7 Gene in Vietnamese Patient with Spondylocostal Dysostosis 4: A Case Report and Literature Review.
Nguyen HM et al.
Diagnostics (basel, Switzerland), 2025
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Ma C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study.
Zhang W et al.
Frontiers in Medicine, 2022
36035411 (PubMed )
Supplement: Data_Sheet_1.PDF
Clinical genetics of spondylocostal dysostosis: A mini review.
Umair M et al.
Frontiers in Genetics, 2022
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
Errichiello E et al.
Clinical Genetics, 2020
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.
Otomo N et al.
Journal of Medical Genetics, 2019
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
Lefebvre M et al.
Journal of Medical Genetics, 2018
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
Lefebvre M et al.
Clinical Genetics, 2017
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