Literature DB >> 28027063

Rubinstein-Taybi because of a novel EP300 mutation with novel clinical findings.

Mateusz Jagla1, Tomasz B Tomasik, Ola Czyz, Mateusz Krol, Jeroen K J van Houdt, Przemko Kwinta, Beata A Nowakowska.   

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Year:  2017        PMID： 28027063     DOI： 10.1097/MCD.0000000000000164

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


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  1 in total

1.  Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

Authors:  María López; Alberto García-Oguiza; Judith Armstrong; Inmaculada García-Cobaleda; Sixto García-Miñaur; Fernando Santos-Simarro; Verónica Seidel; Elena Domínguez-Garrido
Journal:  BMC Med Genet       Date:  2018-03-05       Impact factor: 2.103
  1 in total

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