Advanced search
Publication Cover
Journal of Obstetrics and Gynaecology Volume 39, 2019 - Issue 8
Submit an article Journal homepage
200
Views
2
CrossRef citations to date
0
Altmetric
Case Reports

Prenatal diagnosis of campomelic dysplasia due to SOX9 deletion

Gulsum KayhanDepartment of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey; Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0002-4286-243X
ORCID Icon,
Pınar CalisDepartment of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, Ankara, Turkey
,
Deniz KarcaaltincabaDepartment of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, Ankara, TurkeyORCID Iconhttp://orcid.org/0000-0001-5276-9303
ORCID Icon &
Esra TugDepartment of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey;
Pages 1175-1176 | Published online: 24 Jun 2019

References

  • Cameron FJ, Sinclair AH. 1997. Mutations in SRY and SOX9: testis-determining genes. Human Mutation 9:388–395.
  • Maroteaux P, Spranger JW, Opitz JM, Kucera J, Lowry RB, Schimke RN, et al. 1971. [The campomelic syndrome]. La Presse Medicale 79:1157–1162.
  • Matsushita M, Kitoh H, Kaneko H, Mishima K, Kadono I, Ishiguro N, et al. 2013. A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. American Journal of Medical Genetics 161A:2528–2534.
  • Monni G, Iuculano A, Zoppi MA. 2014. Screening and invasive testing in twins. Journal of Clinical Medicine 3:865–882.
  • Olney PN, Kean LS, Graham D, Elsas LJ, May KM. 1999. Campomelic syndrome and deletion of SOX9. American Journal of Medical Genetics 84:20–24.
  • Pop R, Conz C, Lindenberg KS, Blesson S, Schmalenberger B, Briault S, et al. 2004. Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. Journal of Medical Genetics 41:47.
  • Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T, et al. 2007. Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. American Journal of Medical Genetics. Part A 143A:866–870.
  • Thomas S, Winter R, Lonstein J. 1997. The treatment of progressive kyphoscoliosis in Camptomelic dysplasia. Spine 22:1330–1337.
  • Unger S, Scherer G, Superti-Furga A. 2008. Campomelic dysplasia. GeneReviews® [Internet]. Seattle (WA): University of Washington. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1760/.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.