Literature DB >> 28763312

3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects.

Marley B Lawrence1, Alexandra Arreola, Michael Cools, Scott Elton, Karen S Wood.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 28763312     DOI： 10.1097/MCD.0000000000000193

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


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  3 in total

1.  A familial 3q28q29 duplication induced mild intellectual disability: case presentation and literature review.

Authors:  Xiaohui Wen; Jianjiang Zhu; Lirong Cai; Guodong Tang; Wen Zeng; Yao Luo; Qiao Zhang; Huawei Zhao; Xiaojun Li; Hong Qi
Journal:  Am J Transl Res       Date:  2022-03-15       Impact factor: 4.060

2.  New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.

Authors:  Rebecca M Pollak; Michael C Zinsmeister; Melissa M Murphy; Michael E Zwick; Jennifer G Mulle
Journal:  Am J Med Genet A       Date:  2020-03-10       Impact factor: 2.802

3.  Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.

Authors:  Ikeoluwa A Osei-Owusu; Alexis L Norris; Anya T Joynt; Jeremy Thorpe; Soonweng Cho; Elaine Tierney; Jonathan Schmidt; Louis Hagopian; Jacqueline Harris; Jonathan Pevsner
Journal:  Cold Spring Harb Mol Case Stud       Date:  2020-12-17
  3 in total

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