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...

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Bibliographic Details
Published in:Bone Reports
Main Authors: Mariam Abdelkarim, Dalal Alageel, Faridul Ahsan, Raghad Alhuthil, Haifa Alsarhani, Afaf Alsagheir
Format: Article
Language:English
Published: Elsevier 2023-12-01
Subjects:
Hajdu Cheney
Acroosteolysis
NOTCH2
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187223000578

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http://www.sciencedirect.com/science/article/pii/S2352187223000578

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