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...

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Detalles Bibliográficos
Autores principales: Liu, Yi, Wu, Yinghui, Tang, Hongxia, Liu, Fan, Wu, Yali, Wang, Shasha, Ding, Yan, Yin, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
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

Internet

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

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