Literature DB >> 11252003

Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.

H Vassal, A Medeira, I Cordeiro, H G Santos, S Castedo, C Saraiva, P M da Silva, C Monteiro.   

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Year:  2001        PMID： 11252003     DOI： 10.1002/1096-8628(20010401)99:4<331::aid-ajmg1175>3.0.co;2-w

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  2 in total

1.  Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion.

Authors:  Nadja Kokalj-Vokac; Natasa Marcun-Varda; Andreja Zagorac; Alenka Erjavec-Skerget; Boris Zagradisnik; Mirjana Todorovic; Alojz Gregoric
Journal:  Eur J Pediatr       Date:  2004-08-12       Impact factor: 3.183

2.  A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization.

Authors:  Ioannis Papoulidis; Annalisa Vetro; Vassilis Paspaliaris; Monika Ziegler; Katharina Kreskowski; George Daskalakis; Vasilios Papadopoulos; Themistoklis Dagklis; Thomas Liehr; Loretta Thomaidis; Emmanouil Manolakos
Journal:  Curr Genomics       Date:  2018-04       Impact factor: 2.236
  2 in total

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