Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Lignende værker

• Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia
  af: Lausch, Ekkehart, et al.
  Udgivet: (2009)
• TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
  af: Lausch, Ekkehart, et al.
  Udgivet: (2008)
• Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
  af: Li, Dong, et al.
  Udgivet: (2015)
• Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case
  af: Diaz Escagedo, Patricia, et al.
  Udgivet: (2021)
• Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
  af: Warman, Matthew L, et al.
  Udgivet: (2011)