Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

Gelijkaardige items

• FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation
  door: De Baere, Elfride, et al.
  Gepubliceerd in: (2003)
• Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome
  door: Haghighi, Alireza, et al.
  Gepubliceerd in: (2014)
• Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
  door: Setoodeh, Aria, et al.
  Gepubliceerd in: (2013)
• Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility
  door: Haghighi, Amirreza, et al.
  Gepubliceerd in: (2013)
• Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins
  door: KIM, Jae-Hong, et al.
  Gepubliceerd in: (2013)