P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency
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| Main Authors: | , , , , , , , , , , , , |
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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/S2949774425001815 |
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| _version_ | 1850175982466498560 |
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| author | Marta Bertamino David Goldberg M. Zulf Mughal Y. Joyce Liao Lisa Pabst Lisa R. Sun Katie Swanner Ruth du Moulin Jane Beckwell Amina Kozaric Mark Kiel Carlos Ferreira Shira Ziegler |
| author_facet | Marta Bertamino David Goldberg M. Zulf Mughal Y. Joyce Liao Lisa Pabst Lisa R. Sun Katie Swanner Ruth du Moulin Jane Beckwell Amina Kozaric Mark Kiel Carlos Ferreira Shira Ziegler |
| author_sort | Marta Bertamino |
| collection | DOAJ |
| format | Article |
| id | doaj-art-bb1c461d7ee6484a873bd356f41e561f |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-bb1c461d7ee6484a873bd356f41e561f2025-08-20T02:19:22ZengElsevierGenetics in Medicine Open2949-77442025-01-01310214210.1016/j.gimo.2025.102142P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiencyMarta Bertamino0David Goldberg1M. Zulf Mughal2Y. Joyce Liao3Lisa Pabst4Lisa R. Sun5Katie Swanner6Ruth du Moulin7Jane Beckwell8Amina Kozaric9Mark Kiel10Carlos Ferreira11Shira Ziegler12IRCCS Istituto Giannina GasliniChildren's Hospital of PhiladelphiaAl Jalila Children’s Specialty HospitalStanford University Byers Eye InstituteUniversity of Utah HealthJohns Hopkins University School of MedicineInozyme PharmaInozyme PharmaGenomenon, IncGenomenon, IncGenomenon, IncEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentJohns Hopkins University School of Medicinehttp://www.sciencedirect.com/science/article/pii/S2949774425001815 |
| spellingShingle | Marta Bertamino David Goldberg M. Zulf Mughal Y. Joyce Liao Lisa Pabst Lisa R. Sun Katie Swanner Ruth du Moulin Jane Beckwell Amina Kozaric Mark Kiel Carlos Ferreira Shira Ziegler P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency Genetics in Medicine Open |
| title | P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency |
| title_full | P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency |
| title_fullStr | P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency |
| title_full_unstemmed | P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency |
| title_short | P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency |
| title_sort | p177 evaluation of the genotypic and phenotypic spectrum of pediatric abcc6 deficiency |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425001815 |
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