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Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3

  • Authors:
    • Anna Polityko
    • Olga Maltseva
    • Natalia Rumyantseva
    • Olga Khurs
    • Jörg Seidel
    • Uwe Claussen
    • Anja Weise
    • Thomas Liehr
    • Heike Starke

  • View Affiliations

  • Published online on: December 1, 2004     https://doi.org/10.3892/ijmm.14.6.977
  • Pages: 977-979
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Abstract

In this report, we describe two unrelated patients with mental retardation and brachydactyly E classified as patients suffering from Albright hereditary osteodystrophy-like (AHO-like) syndrome. Fluorescence in situ hybridization (FISH) analysis using 8 different subtelomeric probes in 2q36-37 proved that the patients had subtelomeric 2qter deletions of similar size. The recently proposed candidate gene glypican 1 (GPC1) is deleted in both reported patients.

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Journal Cover

December 2004
Volume 14 Issue 6

Print ISSN: 1107-3756
Online ISSN:1791-244X

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  • Journal Metrics
  • Impact Factor: 5.4
  • Ranked Medicine Research and Experimental
    (total number of cites)
  • CiteScore: 10.7
  • CiteScore Rank: Q1: #35/328 Biochemistry, Genetics and Molecular Biology
  • Source Normalized Impact per Paper (SNIP): 0.994
  • SCImago Journal Rank (SJR): 0.922
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Spandidos Publications style
Polityko A, Maltseva O, Rumyantseva N, Khurs O, Seidel J, Claussen U, Weise A, Liehr T and Starke H: Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3. Int J Mol Med 14: 977-979, 2004
APA
Polityko, A., Maltseva, O., Rumyantseva, N., Khurs, O., Seidel, J., Claussen, U. ... Starke, H. (2004). Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3. International Journal of Molecular Medicine, 14, 977-979. https://doi.org/10.3892/ijmm.14.6.977
MLA
Polityko, A., Maltseva, O., Rumyantseva, N., Khurs, O., Seidel, J., Claussen, U., Weise, A., Liehr, T., Starke, H."Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3". International Journal of Molecular Medicine 14.6 (2004): 977-979.
Chicago
Polityko, A., Maltseva, O., Rumyantseva, N., Khurs, O., Seidel, J., Claussen, U., Weise, A., Liehr, T., Starke, H."Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3". International Journal of Molecular Medicine 14, no. 6 (2004): 977-979. https://doi.org/10.3892/ijmm.14.6.977