Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Aagaard Nolting, L., Holling, T., Nishimura, G., Ek, J., Bak, M., Ljungberg, M., Kutsche, K. & Hove, H., 27 maj 2024, (E-pub ahead of print) I: Clinical Genetics.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review