A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice
We report a patient diagnosed with a COL4A1 mutation in the early postnatal period. Patients with early postnatal jaundice, intracranial lesions that are negative for TORCH syndrome, and recurrent hemolytic anemia should be suspected of having a COL4A1/COL4A2 gene mutation.
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/1594364 |
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| _version_ | 1832567522999664640 |
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| author | Akihiro Kirimura Hajime Yasuhara Soshi Hachisuka Kumiko Takagi Reiko Ebisu Ayako Ohgitani Hideki Minowa |
| author_facet | Akihiro Kirimura Hajime Yasuhara Soshi Hachisuka Kumiko Takagi Reiko Ebisu Ayako Ohgitani Hideki Minowa |
| author_sort | Akihiro Kirimura |
| collection | DOAJ |
| description | We report a patient diagnosed with a COL4A1 mutation in the early postnatal period. Patients with early postnatal jaundice, intracranial lesions that are negative for TORCH syndrome, and recurrent hemolytic anemia should be suspected of having a COL4A1/COL4A2 gene mutation. |
| format | Article |
| id | doaj-art-750f261aec304a6a972f2e8949116f73 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-750f261aec304a6a972f2e8949116f732025-02-03T01:01:20ZengWileyCase Reports in Genetics2090-65522022-01-01202210.1155/2022/1594364A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe JaundiceAkihiro Kirimura0Hajime Yasuhara1Soshi Hachisuka2Kumiko Takagi3Reiko Ebisu4Ayako Ohgitani5Hideki Minowa6Department of Neonatal Intensive Care UnitDepartment of Neonatal Intensive Care UnitDepartment of Neonatal Intensive Care UnitDepartment of Neonatal Intensive Care UnitDepartment of Neonatal Intensive Care UnitDepartment of Neonatal Intensive Care UnitDepartment of Neonatal Intensive Care UnitWe report a patient diagnosed with a COL4A1 mutation in the early postnatal period. Patients with early postnatal jaundice, intracranial lesions that are negative for TORCH syndrome, and recurrent hemolytic anemia should be suspected of having a COL4A1/COL4A2 gene mutation.http://dx.doi.org/10.1155/2022/1594364 |
| spellingShingle | Akihiro Kirimura Hajime Yasuhara Soshi Hachisuka Kumiko Takagi Reiko Ebisu Ayako Ohgitani Hideki Minowa A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice Case Reports in Genetics |
| title | A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice |
| title_full | A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice |
| title_fullStr | A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice |
| title_full_unstemmed | A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice |
| title_short | A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice |
| title_sort | neonatal patient diagnosed with a col4a1 mutation presenting with hemorrhagic infarction and severe jaundice |
| url | http://dx.doi.org/10.1155/2022/1594364 |
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