P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
Makenzie Fulmer,
Matt Velinder,
Ashley Andrews,
Russell Butterfield,
Rong Mao,
Kourtney Santucci,
Lorenzo Botto,
Pinar Bayrak-Toydemir
Affiliations
Makenzie Fulmer
ARUP Laboratories, Salt Lake City, UT
Matt Velinder
Metrodora Institute, Salt Lake City, UT
Ashley Andrews
Division of Medical Genetics, University of Utah, Salt Lake City, UT
Russell Butterfield
Division of Pediatric Neurology, University of Utah, Salt Lake City, UT
Rong Mao
ARUP Laboratories, Salt Lake City, UT
Kourtney Santucci
Children's Hospital Colorado, University of Colorado, Aurora, CO
Lorenzo Botto
Division of Medical Genetics, University of Utah, Salt Lake City, UT
