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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
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 |