A novel homozygous variant in <i>SLC25A46</i> gene associated with pontocerebellar hypoplasia type 1E: a case report.

Auteurs

Guillaume A, Stejskal V, Smits G, Kelen D

  • Date de publication

    January 2024

  • Type

    Other

  • Review

    Front Pediatr

  • Researcher's name

    Kelen Dorottya

  • Hôpital

    Hôpital Erasme

  • Service

    Clinique de Néonatalogie intensive et non-intensive campus Erasme

  • PMID

    38464896

  • DOI

    10.3389/fped.2024.1303772