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Case report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family
OBJECTIVE: To perform molecular genetic analysis of a patient diagnosed with primary hypertrophic osteoarthropathy (PHO) with malnourishment, intussusception, and acro-osteolysis. CASE PRESENTATION: At the age of 7 years, a boy born to a consanguineous couple was diagnosed with PHO attributed to del...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034379/ https://www.ncbi.nlm.nih.gov/pubmed/36969274 http://dx.doi.org/10.3389/fped.2023.1063244 |