The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series

Lignende værker

• A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
  af: Youssefian, Leila, et al.
  Udgivet: (2017)
• 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
  af: Saeidian, Amir Hossein, et al.
  Udgivet: (2019)
• Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations
  af: Youssefian, Leila, et al.
  Udgivet: (2019)
• Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity
  af: Youssefian, Leila, et al.
  Udgivet: (2021)
• Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
  af: Youssefian, Leila, et al.
  Udgivet: (2017)