1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

Natalia Duarte Linhares; Maira Cristina Menezes Freire; Raony Guimaraes Correa do Carmo Lisboa Cardenas; Heloisa Barbosa Pena; Katherine Lachlan; Bruno Dallapiccola; Carlos Bacino; Bruno Delobel; Paul James; Ann-Charlotte Thuresson; Goran Anneren; Sergio DJ Pena

Journal article

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

Natalia Duarte Linhares, Maira Cristina Menezes Freire, Raony Guimaraes Correa do Carmo Lisboa Cardenas, Heloisa Barbosa Pena, Katherine Lachlan, Bruno Dallapiccola, Carlos Bacino, Bruno Delobel, Paul James, Ann-Charlotte Thuresson, Goran Anneren, Sergio DJ Pena

Genetics and Molecular Biology | SOC BRASIL GENETICA | Published : 2016

DOI: 10.1590/1678-4685-GMB-2016-0049

University of Melbourne Researchers

Paul James Author The Sir Peter MacCallum Department of Oncology

Grants

Awarded by FAPEMIG grant

Funding Acknowledgements

The authors are grateful to the patients and their family for their precious cooperation in this study. We thank Dr. Sergio Pereira of The Centre for Applied Genomics, The Hospital for Sick Children (Toronto, Canada) for assistance with exome data interpretation. This work was supported by FAPEMIG grant to SDJP (process CDS-30/11). MCMF and RGCCLC were supported by a fellowship from CAPES and NDL was supported by a fellowship from CNPq. This study makes use of data generated by the DECIPHER Consortium. A full list of centres that contributed to the generation of the data is available from the website and via email from decipher@sanger.ac.uk. Funding for the DECIPHER project was provided by the Wellcome Trust.