A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

التفاصيل البيبلوغرافية
العنوان:	A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice
المؤلفون:	Akihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, Kumiko Takagi, Reiko Ebisu, Ayako Ohgitani, Hideki Minowa
المصدر:	Case Reports in Genetics, Vol 2022 (2022)
بيانات النشر:	Wiley, 2022.
سنة النشر:	2022
المجموعة:	LCC:Genetics
مصطلحات موضوعية:	Genetics, QH426-470
الوصف:	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.
نوع الوثيقة:	article
وصف الملف:	electronic resource
اللغة:	English
تدمد:	2090-6552
Relation:	https://doaj.org/toc/2090-6552
DOI:	10.1155/2022/1594364
URL الوصول:	https://doaj.org/article/750f261aec304a6a972f2e8949116f73
رقم الأكسشن:	edsdoj.750f261aec304a6a972f2e8949116f73
قاعدة البيانات:	Directory of Open Access Journals

الوصف
تدمد:	20906552
DOI:	10.1155/2022/1594364