A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice. (14th October 2022)

• Record Type: Journal Article
• Authors: Kirimura, Akihiro; Yasuhara, Hajime; Hachisuka, Soshi; Takagi, Kumiko; Ebisu, Reiko; Ohgitani, Ayako; Minowa, Hideki
• Other Names: Mittal Balraj Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2022(2022)
• Publication Date: 2022-10-14
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2022/1594364
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : 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.