P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425013378 |
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| _version_ | 1849713293868924928 |
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| author | Burak Altintas Maria Stunkel Gary Gottesman Jennifer Heeley |
| author_facet | Burak Altintas Maria Stunkel Gary Gottesman Jennifer Heeley |
| author_sort | Burak Altintas |
| collection | DOAJ |
| format | Article |
| id | doaj-art-5c5eccd3a1244b85b38454b3ad4a2c90 |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-5c5eccd3a1244b85b38454b3ad4a2c902025-08-20T03:14:00ZengElsevierGenetics in Medicine Open2949-77442025-01-01310329810.1016/j.gimo.2025.103298P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndromeBurak Altintas0Maria Stunkel1Gary Gottesman2Jennifer Heeley3Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MODepartment of Ophthalmology, Mercy Clinic, St. Louis, MODivision of Genetics and Genomic Medicine, Washington University in St. Louis School of MedicineDivision of Genetics and Genomic Medicine, Washington University in St. Louis School of Medicinehttp://www.sciencedirect.com/science/article/pii/S2949774425013378 |
| spellingShingle | Burak Altintas Maria Stunkel Gary Gottesman Jennifer Heeley P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome Genetics in Medicine Open |
| title | P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome |
| title_full | P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome |
| title_fullStr | P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome |
| title_full_unstemmed | P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome |
| title_short | P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome |
| title_sort | p431 expanding the genotypic and phenotypic description of an ultra rare condition a neonatal presentation of spondylo ocular syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425013378 |
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