Literature DB >> 18348258

Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

Ramon Y Birnbaum1, Daniella Landau, Khalil Elbedour, Rivka Ofir, Ohad S Birk, Rivka Carmi.   

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Year:  2008        PMID： 18348258     DOI： 10.1002/ajmg.a.31903

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

Review 1.  Do cell junction protein mutations cause an airway phenotype in mice or humans?

Authors:  Eugene H Chang; Alejandro A Pezzulo; Joseph Zabner
Journal:  Am J Respir Cell Mol Biol       Date:  2011-02-04       Impact factor: 6.914

2.  Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep.

Authors:  Aroa Suárez-Vega; Beatriz Gutiérrez-Gil; Julio Benavides; Valentín Perez; Gwenola Tosser-Klopp; Christophe Klopp; Stephen J Keennel; Juan José Arranz
Journal:  PLoS One       Date:  2015-05-08       Impact factor: 3.240

3.  Bart's Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia.

Authors:  Muhammad Saeed; Anwar Ul Haq; Khaqan Qadir
Journal:  Iran J Child Neurol       Date:  2014

4.  Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita.

Authors:  Melinda Matyas; Diana Miclea; Gabriela Zaharie
Journal:  Front Genet       Date:  2021-07-08       Impact factor: 4.599

5.  Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome.

Authors:  Julian Trah; Christina Has; Ingrid Hausser; Heinz Kutzner; Konrad Reinshagen; Ingo Königs
Journal:  Dermatol Ther (Heidelb)       Date:  2018-05-18
  5 in total

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