A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

Lignende værker

• The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection
  af: Okada, Asami, et al.
  Udgivet: (2017)
• A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
  af: Wang, Xiu-Wen, et al.
  Udgivet: (2020)
• A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome
  af: Wang, Linda R., et al.
  Udgivet: (2018)
• Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
  af: Garg, Abhimanyu, et al.
  Udgivet: (2009)
• Overlapping syndrome with Familial Partial Lipodystrophy, Dunnigan variety and Cardiomyopathy due to Amino-terminal Heterozygous Missense lamin A/C Mutations
  af: Subramanyam, Lalitha, et al.
  Udgivet: (2009)