P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy

Bibliographic Details
Main Authors:	Makenzie Fulmer, Matt Velinder, Ashley Andrews, Russell Butterfield, Rong Mao, Kourtney Santucci, Lorenzo Botto, Pinar Bayrak-Toydemir
Format:	Article
Language:	English
Published:	Elsevier 2023-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774423005095

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