P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
Genetics in Medicine Open（2023）
Key words
spondyloepimetaphyseal dysplasia,leukodystrophy,genomic reanalysis,medical unknowns
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