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

• Asıl Yazarlar: Yi Liu (Yazar), Yinghui Wu (Yazar), Hongxia Tang (Yazar), Fan Liu (Yazar), Yali Wu (Yazar), Shasha Wang (Yazar), Yan Ding (Yazar), Wei Yin (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...