P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423005095 |
| _version_ | 1831880640451051520 |
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| author | Makenzie Fulmer Matt Velinder Ashley Andrews Russell Butterfield Rong Mao Kourtney Santucci Lorenzo Botto Pinar Bayrak-Toydemir |
| author_facet | Makenzie Fulmer Matt Velinder Ashley Andrews Russell Butterfield Rong Mao Kourtney Santucci Lorenzo Botto Pinar Bayrak-Toydemir |
| author_sort | Makenzie Fulmer |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:26:55Z |
| format | Article |
| id | doaj.art-b35f08ef9acb478c8803766fa0d72044 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2025-03-21T22:05:03Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-b35f08ef9acb478c8803766fa0d720442024-05-25T04:58:10ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100509P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophyMakenzie Fulmer0Matt Velinder1Ashley Andrews2Russell Butterfield3Rong Mao4Kourtney Santucci5Lorenzo Botto6Pinar Bayrak-Toydemir7ARUP Laboratories, Salt Lake City, UTMetrodora Institute, Salt Lake City, UTDivision of Medical Genetics, University of Utah, Salt Lake City, UTDivision of Pediatric Neurology, University of Utah, Salt Lake City, UTARUP Laboratories, Salt Lake City, UTChildren's Hospital Colorado, University of Colorado, Aurora, CODivision of Medical Genetics, University of Utah, Salt Lake City, UTARUP Laboratories, Salt Lake City, UThttp://www.sciencedirect.com/science/article/pii/S2949774423005095 |
| spellingShingle | Makenzie Fulmer Matt Velinder Ashley Andrews Russell Butterfield Rong Mao Kourtney Santucci Lorenzo Botto Pinar Bayrak-Toydemir 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 |
| title | P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy |
| title_full | P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy |
| title_fullStr | P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy |
| title_full_unstemmed | P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy |
| title_short | P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy |
| title_sort | p462 importance of genomic reanalysis to uncover medical unknowns a udn case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423005095 |
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