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  5. Blepharophimosis syndrome type 2

Blepharophimosis syndrome type 2

December 31, 2014

Latest Research

  • A clinical dilemma: the potential use of egg freezing to preserve fertility in a young patient at risk of developing premature ovarian failure
  • A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome
  • A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q
  • A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
  • A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus
More Research
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