Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing

Documenti analoghi

• A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
  di: Youssefian, Leila, et al.
  Pubblicazione: (2017)
• Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
  di: Youssefian, Leila, et al.
  Pubblicazione: (2017)
• The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series
  di: Youssefian, Leila, et al.
  Pubblicazione: (2018)
• Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity
  di: Youssefian, Leila, et al.
  Pubblicazione: (2021)
• Analysis of homozygosity disequilibrium using whole-genome sequencing data
  di: Yang, Hsin-Chou, et al.
  Pubblicazione: (2014)