A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.

Auteurs

Neuens S, Kausar M, Kang SK, Soblet J, Van Dooren S, Olsen C, Janssen T, Caljon B, Jun CD, Smits G, Coppens S, Vilain C

  • Date de publication

    May 2024

  • Type

    Other

  • Review

    Am J Med Genet A

  • Researcher's name

    Vilain Catheline

  • Hôpital

    Hôpital Erasme

  • Service

    Génétique

  • PMID

    38808951

  • DOI

    10.1002/ajmg.a.63727