Literature DB >> 2185632

Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome.

R Gershoni-Baruch1, A Lerner, J Braun, Y Katzir, T C Iancu, A Benderly.   

Abstract

We report on 2 patients with Johanson Blizzard syndrome and review the literature, in an attempt to further characterize the clinical spectrum of this disorder.

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Mesh：

Year:  1990        PMID： 2185632     DOI： 10.1002/ajmg.1320350421

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


  6 in total

1.  Johanson-Blizzard syndrome.

Authors:  Nabeel Almashraki; Mukarram Zainuddin Abdulnabee; Maja Sukalo; Abdullah Alrajoudi; Iman Sharafadeen; Martin Zenker
Journal:  World J Gastroenterol       Date:  2011-10-07       Impact factor: 5.742

2.  The temporal bone in the Johanson-Blizzard syndrome. A CT study.

Authors:  J Braun; A Lerner; R Gershoni-Baruch
Journal:  Pediatr Radiol       Date:  1991

3.  Johanson--blizzard syndrome.

Authors:  M L Kulkarni; S K Shetty; K S Kallambella; P M Kulkarni
Journal:  Indian J Pediatr       Date:  2004-12       Impact factor: 1.967

Review 4.  Eponym: Johanson-Blizzard syndrome.

Authors:  Nima Rezaei; Mozhgan Sabbaghian; Zhifeng Liu; Martin Zenker
Journal:  Eur J Pediatr       Date:  2010-06-17       Impact factor: 3.183

5.  Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.

Authors:  Gholam Hossein Fallahi; Mozhgan Sabbaghian; Manijeh Khalili; Nima Parvaneh; Martin Zenker; Nima Rezaei
Journal:  Eur J Pediatr       Date:  2010-06-17       Impact factor: 3.183

6.  Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

Authors:  Curtis K Deutsch; Tania Hreczko; Lewis B Holmes
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2013-03-06
  6 in total

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