A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

Antzeko izenburuak

• A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma
  nork: Hersmus, Remko, et al.
  Argitaratua: (2009)
• A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
  nork: Remko Hersmus, et al.
  Argitaratua: (2012-01-01)
• A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation
  nork: Hersmus, Remko, et al.
  Argitaratua: (2012)
• SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype
  nork: Hersmus, Remko, et al.
  Argitaratua: (2012)
• Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
  nork: Eggers, Stefanie, et al.
  Argitaratua: (2015)