Recurrent infections and short stature â listening may be the key. A Bloom syndrome case report

Introduction: Bloom syndrome is a rare autosomal recessive disorder characterized by chromosomal instability caused by mutations in the BLM gene that increase the risk of developing neoplasia, particularly at an early age. Bloom syndrome is typically characterized by short stature, photosensitivity,...

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التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Portuguese Journal of Pediatrics
المؤلفون الرئيسيون:	Margarida Almendra, Ana I. Cordeiro, Rosa Pina, Catarina Martins, Conceição Neves, João Farela-Neves
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Publicaciones Permanyer 2024-07-01
الموضوعات:	Bloom syndrome. Chromosomal instability. Sister chromatid exchange. Novel mutation. Case report.
الوصول للمادة أونلاين:	https://pjp.spp.pt/frame_eng.php?id=81