Trisomy of the short stature homeobox-containing gene (SHOX ), resulting from a duplication-deletion of the X chromosome
Author:
Publisher
Wiley
Subject
Endocrinology, Diabetes and Metabolism,Endocrinology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2265.2002.01504.x/fullpdf
Reference17 articles.
1. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome;Ballabio;Proceedings of the National Academy of Science USA,1989
2. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome);Belin;Nature Genetics,1998
3. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turners syndrome;Clement-Jones;Human Molecular Genetics,2000
4. SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome;Cormier-Daire;Acta Paediatrica Supplement,1999
5. PHOG, a candidate gene for involvement in the short stature of Turner syndrome;Ellison;Human Molecular Genetics,1997
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1. SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease;Case Reports in Genetics;2019-04-08
2. Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing;Clinica Chimica Acta;2018-01
3. Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes;Acta Paediatrica;2017-07-20
4. Etiologic and pathogenetic aspects of non-mosaic form of Klinefelter syndrome;Problemy reproduktsii;2017
5. The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype;Andrology;2016-01-20
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