A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

Documenti analoghi

• Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
  di: Merico, Daniele, et al.
  Pubblicazione: (2015)
• Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
  di: Hallermayr, Ariane, et al.
  Pubblicazione: (2018)
• Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
  di: Ariane Hallermayr, et al.
  Pubblicazione: (2018-11-01)
• The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
  di: Farach, Laura S., et al.
  Pubblicazione: (2017)
• Microcephalic Osteodysplastic Primordial Dwarfism type I with biallelic mutations in the RNU4ATAC gene
  di: Nagy, Rebecca, et al.
  Pubblicazione: (2011)