Literature DB >> 19921635

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.

Bruno Dallapiccola1, Laura Bernardini, Antonio Novelli, Rita Mingarelli.   

Abstract

Mesh：

Year:  2009        PMID： 19921635     DOI： 10.1002/ajmg.a.32662

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


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  2 in total

1.  A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management.

Authors:  Paula de Sousa; Alasdair Kennedy; Heva H S Lalani
Journal:  Clin Case Rep       Date:  2018-05-24

2.  16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.

Authors:  Mingran Sun; Han Zhang; Guiying Li; Xianfu Wang; Xianglan Lu; Andrea Sternenberger; Carrie Guy; Wenfu Li; Jiyun Lee; Lei Zheng; Shibo Li
Journal:  Mol Cytogenet       Date:  2014-11-25       Impact factor: 2.009
  2 in total

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