P213: Novel skeletal anomalies with KMT2A pathogenic variants: Expanding the phenotypic features of Wiedemann-Steiner syndrome
| 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/S2949774423002418 |
| _version_ | 1797342064900308992 |
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| author | Tiayrra Kirkwood Lea Parsley |
| author_facet | Tiayrra Kirkwood Lea Parsley |
| author_sort | Tiayrra Kirkwood |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:28:01Z |
| format | Article |
| id | doaj.art-e27211fb014942cc9d533da459a58a6c |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:28:01Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-e27211fb014942cc9d533da459a58a6c2024-01-27T07:06:04ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100241P213: Novel skeletal anomalies with KMT2A pathogenic variants: Expanding the phenotypic features of Wiedemann-Steiner syndromeTiayrra Kirkwood0Lea Parsley1University of Illinois College of MedicineUniversity of Illinois College of Medicine, Mercy Health, Rockford, ILhttp://www.sciencedirect.com/science/article/pii/S2949774423002418 |
| spellingShingle | Tiayrra Kirkwood Lea Parsley P213: Novel skeletal anomalies with KMT2A pathogenic variants: Expanding the phenotypic features of Wiedemann-Steiner syndrome Genetics in Medicine Open |
| title | P213: Novel skeletal anomalies with KMT2A pathogenic variants: Expanding the phenotypic features of Wiedemann-Steiner syndrome |
| title_full | P213: Novel skeletal anomalies with KMT2A pathogenic variants: Expanding the phenotypic features of Wiedemann-Steiner syndrome |
| title_fullStr | P213: Novel skeletal anomalies with KMT2A pathogenic variants: Expanding the phenotypic features of Wiedemann-Steiner syndrome |
| title_full_unstemmed | P213: Novel skeletal anomalies with KMT2A pathogenic variants: Expanding the phenotypic features of Wiedemann-Steiner syndrome |
| title_short | P213: Novel skeletal anomalies with KMT2A pathogenic variants: Expanding the phenotypic features of Wiedemann-Steiner syndrome |
| title_sort | p213 novel skeletal anomalies with kmt2a pathogenic variants expanding the phenotypic features of wiedemann steiner syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423002418 |
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