Journal of Clinical & Medical Genomics

Martínez-Valles MA

Publications

• Case Report
  Noonan Syndrome and Systemic Lupus Erythematosus: Association or Risk Factor?
  Author(s): Cerpa-Cruz S, Martínez-Valles MA, Olmedo-Gaytan AG, Pérez-Lizárraga RI, Rodríguez-Cortes E, García-Espinosa A, Aguilera Mora LF, Anaya Silva I, Martínez-Bonilla G, González-Díaz V and Gutiérrez-Ureña SCerpa-Cruz S, Martínez-Valles MA, Olmedo-Gaytan AG, Pérez-Lizárraga RI, Rodríguez-Cortes E, García-Espinosa A, Aguilera Mora LF, Anaya Silva I, Martínez-Bonilla G, González-Díaz V and Gutiérrez-Ureña S
  
  Aim: The RAS/MAPK signaling pathway proteins with germline mutations in their respective genes are associated with several disorders such as Noonan, LEOPARD, neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. Some monogenic conditions are associated with the development of systemic lupus erythematosus (SLE), in medical literature are few reports that describe the association of RAS opathies and autoimmune disease. Our aim was to describe the clinical picture of a patient with diagnosis of Noonan and SLE. Methods: We report a clinical case of a 24-year-old woman with Noonan syndrome who developed SLE according to American College of Rheumatology criteria for the classification of SLE. The patient had arthritis, serositis, lymphopenia, proteinuria, high levels of antinuclear antibodies and anti-ds DNA positive. This rare as.. Read More»
  DOI: 10.4172/2332-0672.1000107

  Abstract PDF