Mother and daughter carrying of the same pathogenic variant in fgfr2 with discordant phenotype

HIGHLIGHTS

• who: Filomena Lo Vecchio and collaborators from the Written informed consent was provided by both mother and daughter to perform molecular analysis as well as for sampling and sharing of clinical information, including picturesThe study protocol was approved by the Ethics Committee of the Catholic University of Rome (prot. N., and10/15). Skin biopsies were performed on both patients to undertake expression studies. DNA was extracted from peripheral blood leukocytes using the standard salting-out protocol. RNA was extracted from skin fibroblasts using Trizol protocols (Thermo scientific, Waltham, MA, USA). RNA was analyzed to gauge expression levels . . .
  

   

  

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