Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

Lignende værker

• Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis
  af: Finsterer, Josef, et al.
  Udgivet: (2020)
• Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report
  af: Tong, Ke, et al.
  Udgivet: (2021)
• Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review
  af: Shasha Wang, et al.
  Udgivet: (2025-10-01)
• A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1
  af: Ruochen Che, et al.
  Udgivet: (2020-05-01)
• A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1
  af: Che, Ruochen, et al.
  Udgivet: (2020)