Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant

Am J Med Genet A. 2020 Mar;182(3):576-578. doi: 10.1002/ajmg.a.61444. Epub 2019 Dec 12.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology
  • Child
  • Child, Preschool
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / diagnostic imaging
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / diagnostic imaging
  • Microcephaly / genetics*
  • Microcephaly / pathology
  • Tubulin / genetics*

Substances

  • TUBA1A protein, human
  • Tubulin