Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation-Reference-Cited by-同舟云学术

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

Published:2015-12-02 Issue:2 Volume:37 Page:160-164
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Gu Shen¹,Posey Jennifer E.¹,Yuan Bo¹,Carvalho Claudia M.B.¹,Luk H.M.²,Erikson Kelly³,Lo Ivan F.M.²,Leung Gordon K.C.⁴⁵,Pickering Curtis R.³,Chung Brian H.Y.⁴⁵,Lupski James R.¹⁶⁷⁸

Affiliation:

1. Department of Molecular & Human Genetics; Baylor College of Medicine; Houston Texas 77030

2. Clinical Genetic Service; Department of Health; Hong Kong China

3. Department of Head and Neck Surgery; The University of Texas MD Anderson Cancer Center; Houston Texas 77030

4. Department of Obstetrics & Gynaecology; Li Ka Shing Faculty of Medicine; The University of Hong Kong; Hong Kong China

5. Department of Paediatrics and Adolescent Medicine; Queen Mary Hospital; Li Ka Shing Faculty of Medicine; The University of Hong Kong; Hong Kong China

6. Department of Pediatrics; Baylor College of Medicine; Houston Texas 77030

7. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas 77030

8. Texas Children's Hospital; Houston Texas 77030

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22929/fullpdf

Reference20 articles.

1. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication;Beck;PLoS Genet,2015

2. Increased LIS1 expression affects human and mouse brain development;Bi;Nat Genet,2009