Literature DB >> 27342041

Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.

Daiki Rokunohe1, Hajime Nakano2, Eijiro Akasaka1, Yuka Toyomaki1, Daisuke Sawamura1.   

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Year:  2016        PMID： 27342041     DOI： 10.1016/j.jdermsci.2016.06.005

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  6 in total

Review 1.  [Syndroms associated with benign skin tumors].

Authors:  George-Sorin Tiplica; Klaus Fritz; Alexandra Irina Butacu; Loredana Ungureanu; Carmen Maria Sălăvăstru
Journal:  Hautarzt       Date:  2022-01-25       Impact factor: 0.751

2.  Benign and malignant tumors in Rubinstein-Taybi syndrome.

Authors:  Max V Boot; Martine J van Belzen; Lucy I Overbeek; Nathalie Hijmering; Matias Mendeville; Quinten Waisfisz; Pieter Wesseling; Raoul C Hennekam; Daphne de Jong
Journal:  Am J Med Genet A       Date:  2018-01-23       Impact factor: 2.802

3.  Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Authors:  Sha Yu; Bingbing Wu; Yanyan Qian; Ping Zhang; Yulan Lu; Xinran Dong; Qing Wang; Xuemei Zhao; Renchao Liu; Wenhao Zhou; Huijun Wang
Journal:  Mol Genet Genomic Med       Date:  2019-10-22       Impact factor: 2.183

4.  Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome.

Authors:  Ana Laura Andrade Bueno; Maria Emilia Vieira de Souza; Carla Graziadio; Ana Elisa Kiszewski
Journal:  An Bras Dermatol       Date:  2020-07-15       Impact factor: 1.896

Review 5.  Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Authors:  Julien Van Gils; Frederique Magdinier; Patricia Fergelot; Didier Lacombe
Journal:  Genes (Basel)       Date:  2021-06-24       Impact factor: 4.096

6.  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
  6 in total

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