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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Detalles Bibliográficos
Autores principales: Abdelkarim, Mariam, Alageel, Dalal, Ahsan, Faridul, Alhuthil, Raghad, Alsarhani, Haifa, Alsagheir, Afaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474580/
https://www.ncbi.nlm.nih.gov/pubmed/37664144
http://dx.doi.org/10.1016/j.bonr.2023.101709

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474580/
https://www.ncbi.nlm.nih.gov/pubmed/37664144
http://dx.doi.org/10.1016/j.bonr.2023.101709

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