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A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features
Author(s) -
Li Chumei,
Szybowska Marta
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33693
Subject(s) - rubinstein–taybi syndrome , medical genetics , genetics , medicine , psychology , library science , biology , gene , computer science