P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
| Autor: | Makenzie Fulmer, Matt Velinder, Ashley Andrews, Russell Butterfield, Rong Mao, Kourtney Santucci, Lorenzo Botto, Pinar Bayrak-Toydemir |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Genetics in Medicine Open, Vol 1, Iss 1, Pp 100509- (2023) |
| Druh dokumentu: | article |
| ISSN: | 2949-7744 |
| DOI: | 10.1016/j.gimo.2023.100509 |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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