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Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology

Fuente: Wiley Open Access

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Dettagli Bibliografici
Autori principali:	Line Aagaard Nolting, Tess Holling, Gen Nishimura, Jakob Ek, Mads Bak, Merete Ljungberg, Kerstin Kutsche, Hanne Hove
Natura:	Artículo Open Access
Pubblicazione:	Wiley 2024
Soggetti:	Clinical Genetics
Accesso online:	Acceder al recurso
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