Literature DB >> 27778401

Pilomatricoma Associated with Kabuki Syndrome.

Fanny-Emmanuelle Bernier1, Ariane Schreiber2, Jérome Coulombe1, Afshin Hatami1, Danielle Marcoux1.   

Abstract

We report three cases of pilomatricomas associated with Kabuki syndrome (KS), supporting the hypothesis proposed of an association between pilomatricomas and KS and suggesting a noncoincidental association, because the Wnt pathway mutations involved could affect both morphogenesis and tumorigenesis in these patients.
© 2016 Wiley Periodicals, Inc.

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Year:  2016        PMID： 27778401     DOI： 10.1111/pde.13014

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  4 in total

1.  A new case of the pilomatrixoma rare in the preauricular region and review of series of cases.

Authors:  Tiago Novaes Pinheiro; Flavio Têndolo Fayad; Pedro Arantes; Francine Benetti; Gustav Guimarães; Luciano Tavares Angelo Cintra
Journal:  Oral Maxillofac Surg       Date:  2018-10-03

Review 2.  Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.

Authors:  Yi-Rou Wang; Nai-Xin Xu; Jian Wang; Xiu-Min Wang
Journal:  World J Pediatr       Date:  2019-10-05       Impact factor: 2.764

Review 3.  Kabuki Syndrome-Clinical Review with Molecular Aspects.

Authors:  Snir Boniel; Krystyna Szymańska; Robert Śmigiel; Krzysztof Szczałuba
Journal:  Genes (Basel)       Date:  2021-03-25       Impact factor: 4.096

4.  No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome.

Authors:  Chariyawan Charalsawadi; Sasipong Trongnit; Kanoot Jaruthamsophon; Juthamas Wirojanan; Somchit Jaruratanasirikul; Anupong Nitiruangjaras; Pornprot Limprasert
Journal:  Int J Pediatr       Date:  2021-12-15
  4 in total

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