Costello and Cardio-Facio-Cutaneous Syndromes: Moving Toward Clinical Trials in RASopathies

The RASopathies, one of the largest groups of multiple congenital anomaly syndromes known, are caused by germline mutations in various genes encoding components of the Ras/mitogen-activated protein kinase (MAPK) pathway. The RASopathies have many overlapping characteristics, including craniofacial m...

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Hoofdauteurs: RAUEN, KATHERINE A., BANERJEE, ANURADHA, BISHOP, W. ROBERT, LAUCHLE, JENNIFER O., MCCORMICK, FRANK, MCMAHON, MARTIN, MELESE, TERI, MUNSTER, PAMELA N., NADAF, SORENA, PACKER, ROGER J., SEBOLT-LEOPOLD, JUDITH, VISKOCHIL, DAVID H.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2011
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4145816/
https://ncbi.nlm.nih.gov/pubmed/21495172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30294
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