Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1-Reference-Cited by-同舟云学术

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1

Published:2015-01-22 Issue:4 Volume:52 Page:256-261
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Sant David W,Margraf Rebecca L,Stevenson David A,Grossmann Allie H,Viskochil David H,Hanson Heather,Everitt Melanie D,Rios Jonathan J,Elefteriou Florent,Hennessey Theresa,Mao Rong

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Noonan syndrome;Allanson;J Med Genet,1987

2. Noonan syndrome;Van der Burgt;Orphanet J Rare Dis,2007

3. Diagnosis of Noonan syndrome and related disorders using targeted next generation sequencing;Lepri;BMC Med Genet,2014

4. Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient;Bertola;Am J Med Genet Part A,2005

5. A severe form of Noonan syndrome and autosomal sominany café-au-lait spots—evidence for different genetic origins;Nyström;Acta Paediatr,2009

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