Case report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family

• Main Authors: Yi Liu (Author), Yinghui Wu (Author), Hongxia Tang (Author), Fan Liu (Author), Yali Wu (Author), Shasha Wang (Author), Yan Ding (Author), Wei Yin (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ObjectiveTo perform molecular genetic analysis of a patient diagnosed with primary hypertrophic osteoarthropathy (PHO) with malnourishment, intussusception, and acro-osteolysis.Case presentationAt the age of 7 years, a boy born to a consanguineous couple was diagnosed with PHO attributed to delayed...