Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

Alice Costantini, Helena Valta, Anne-Maarit Suomi, Outi Mäkitie, Fulya Taylan

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number680838
JournalFrontiers in Genetics
Volume12
Number of pages8
ISSN1664-8021
DOIs
Publication statusPublished - 2 Jun 2021
MoE publication typeA1 Journal article-refereed

Fields of Science

  • TRIP11
  • oligogenic inheritance
  • odontochondrodysplasia
  • achondrogenesis type IA
  • short stature
  • RIB-POLYDACTYLY SYNDROME
  • MUTATIONS
  • GENE
  • KINASE
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

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