A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature
Daniela Tiaki Uehara, Hiroshi Mitsubuchi, Johji Inazawa
Topics & Concepts
BiologyKinetochoreMicrocephalyGeneticsChromosome segregationCell biologyChromosomeGeneMicrotubule and mitosis dynamicsGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases