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Schuhmann S, Koller H, Sticht H, et al. Clinical and molecular delineation of spondylocostal dysostosis type 3. Clin Genet. 2021;99(6):851-852doi: 10.1111/cge.13952.
Schuhmann, S., Koller, H., Sticht, H., Kraus, C., Krumbiegel, M., Uebe, S., Ekici, A. B., Reis, A., & Thiel, C. T. (2021). Clinical and molecular delineation of spondylocostal dysostosis type 3. Clinical genetics, 99(6), 851-852. https://doi.org/10.1111/cge.13952
Schuhmann, Sarah, et al. "Clinical and molecular delineation of spondylocostal dysostosis type 3." Clinical genetics vol. 99,6 (2021): 851-852. doi: https://doi.org/10.1111/cge.13952
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, Reis A, Thiel CT. Clinical and molecular delineation of spondylocostal dysostosis type 3. Clin Genet. 2021 Jun;99(6):851-852. doi: 10.1111/cge.13952. Epub 2021 Mar 16. PMID: 33728697.
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Clin Genet. 2021 Jun;99(6):851-852. doi: 10.1111/cge.13952. Epub 2021 Mar 16.

Clinical and molecular delineation of spondylocostal dysostosis type 3.

Clinical genetics

Sarah Schuhmann, Heiko Koller, Heinrich Sticht, Cornelia Kraus, Mandy Krumbiegel, Steffen Uebe, Arif B Ekici, André Reis, Christian T Thiel

Affiliations

  1. Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  2. Universitätsklinik für Neurochirurgie, Klinikum Rechts der Isar, Technische Universität München, Munich, Germany.
  3. Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Germany.

PMID: 33728697 DOI: 10.1111/cge.13952

[No abstract available.]

References

  1. Sparrow DB, Chapman G, Wouters MA, et al. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet. 2006;78:28-37. - PubMed
  2. Lefebvre M, Dieux-Coeslier A, Baujat G, et al. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. J Med Genet. 2018;55:422-429. - PubMed
  3. Takeda K, Kou I, Mizumoto S, et al. Screening of known disease genes in congenital scoliosis. Mol Genet Genomic Med. 2018;6:966-974. - PubMed
  4. Otomo N, Mizumoto S, Lu HF, et al. Identification of novel LFNG mutations in spondylocostal dysostosis. J Hum Genet. 2019;64:261-264. - PubMed
  5. Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer-Rokitansky-Kuster-Hauser syndrome (congenital absence of uterus and vagina)-phenotypic manifestations and genetic approaches. J Negat Results Biomed. 2006;5:1. - PubMed

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