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.

Detalles Bibliográficos
Autores principales: Kirimura, Akihiro, Yasuhara, Hajime, Hachisuka, Soshi, Takagi, Kumiko, Ebisu, Reiko, Ohgitani, Ayako, Minowa, Hideki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586792/
https://www.ncbi.nlm.nih.gov/pubmed/36276610
http://dx.doi.org/10.1155/2022/1594364

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