Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report

Introduction: Hajdu-Cheney syndrome is a rare disorder caused by truncation mutations in exon 34 of the NOTCH2 gene. The main presentation includes acro-osteolysis, osteoporosis, and dysmorphism. This syndrome affects the other body systems as well. Case presentation: We report a case of a 6-year-ol...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Bone Reports
المؤلفون الرئيسيون:	Mariam Abdelkarim, Dalal Alageel, Faridul Ahsan, Raghad Alhuthil, Haifa Alsarhani, Afaf Alsagheir
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Elsevier 2023-12-01
الموضوعات:	Hajdu Cheney Acroosteolysis NOTCH2
الوصول للمادة أونلاين:	http://www.sciencedirect.com/science/article/pii/S2352187223000578

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