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Iris hypopigmentation

Disease

1 paper

Latest

American Journal of Medical Genetics Part A·21 Aug

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism

Case seriesInterventions
Paper

Related

  • Cell cycle regulation1
  • Dietary restriction1
  • GLP-1 and incretin signalling1
  • MED12L1
  • Nizon-Isidor syndrome1
  • RNA splicing1
  • Caloric restriction1
  • Developmental delay1
  • Diploid-triploid mosaicism1
  • Dysphagia1
  • Esotropia1
  • Hemihypertrophy1
  • Laryngeal cleft1
  • Obesity1
  • Pelvic kidney1
  • Periventricular nodular heterotopia1
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