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  5. Aplasia cutis autosomal recessive

Aplasia cutis autosomal recessive

December 31, 2014

Latest Research

  • A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features
  • A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report
  • A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia
  • A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
  • A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
More Research
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