Literature DB >> 15930900

Kohlschutter syndrome in siblings.

D Donnai1, P I Tomlin, R M Winter.   

Abstract

Kohlschutter syndrome is a rare neurodegenerative disorder presenting with intractable seizures, developmental regression and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta. We report a new family with two affected siblings.

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Year:  2005        PMID： 15930900     DOI： 10.1097/00019605-200507000-00003

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  4 in total

1.  Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

Authors:  Anna Schossig; Nicole I Wolf; Christine Fischer; Maria Fischer; Gernot Stocker; Stephan Pabinger; Andreas Dander; Bernhard Steiner; Otmar Tönz; Dieter Kotzot; Edda Haberlandt; Albert Amberger; Barbara Burwinkel; Katharina Wimmer; Christine Fauth; Caspar Grond-Ginsbach; Martin J Koch; Annette Deichmann; Christof von Kalle; Claus R Bartram; Alfried Kohlschütter; Zlatko Trajanoski; Johannes Zschocke
Journal:  Am J Hum Genet       Date:  2012-03-15       Impact factor: 11.025

2.  A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.

Authors:  Adi Mory; Efrat Dagan; Barbara Illi; Philippe Duquesnoy; Shikma Mordechai; Ishai Shahor; Sveva Romani; Nivin Hawash-Moustafa; Hanna Mandel; Enza M Valente; Serge Amselem; Ruth Gershoni-Baruch
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

3.  Kohlschütter-Tönz Syndrome - Report of an additional case.

Authors:  Wilfredo A González-Arriagada; Román Carlos-Bregni; Elisa Contreras; Oslei P Almeida; Marcio A Lopes
Journal:  J Clin Exp Dent       Date:  2013-04-01

4.  Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.

Authors:  Arianna Tucci; Eleanna Kara; Anna Schossig; Nicole I Wolf; Vincent Plagnol; Katherine Fawcett; Coro Paisán-Ruiz; Matthew Moore; Dena Hernandez; Sebastiano Musumeci; Michael Tennison; Raoul Hennekam; Silvia Palmeri; Alessandro Malandrini; Salmo Raskin; Dian Donnai; Corina Hennig; Andreas Tzschach; Roel Hordijk; Thomas Bast; Katharina Wimmer; Chien-Ning Lo; Simon Shorvon; Heather Mefford; Evan E Eichler; Roger Hall; Ian Hayes; John Hardy; Andrew Singleton; Johannes Zschocke; Henry Houlden
Journal:  Hum Mutat       Date:  2012-11-27       Impact factor: 4.878
  4 in total

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