Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with Congenital Hypothyroidism: Ruling Out Recessive Inheritance or a Kinship/Laboratory Sequencing Error

J Appl Lab Med. 2023 Sep 7;8(5):993-999. doi: 10.1093/jalm/jfad039.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 2 / genetics
  • Congenital Hypothyroidism* / diagnosis
  • Congenital Hypothyroidism* / genetics
  • Humans
  • Polymorphism, Single Nucleotide
  • Uniparental Disomy* / diagnosis
  • Uniparental Disomy* / genetics