Clinical spectrum of mtor-related hypomelanosis of ito with neurodevelopmental abnormalities

HIGHLIGHTS

• who: Virginie Carmignac from the Next-generation sequencing DNA analysis was performed at Dijon GAD laboratory, Universitu00e9 de Bourgogne, for , patients, and at University College London for , patientsGenomic DNA was extracted from blood, mm punch biopsies of hypopigmented skin, cultured skin fibroblasts, buccal swabs, and saliva specimens. Details on next-generation sequencing are available in Supplementary Methods. In-depth exome sequencing on whole-skin biopsies and blood genomic DNA was initially performed in , patients with hypopigmented bands along Blaschko`s lines or segmental hypochromic patches, associated with various extracutaneous features (flow diagram in Supplementary Figure, ). We found . . .
  

   

  

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