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Metaphyseal anadysplasia

Also Known As:

Early-onset regressive form of metaphyseal dysplasia

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Metaphyseal anadysplasia: 1
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Metaphyseal anadysplasia: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Metaphyseal anadysplasia: 1
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Metaphyseal anadysplasia: 1

Experts

1.	Deardorff, Matthew A: 1 article (02/2015)
2.	Hakonarson, Hakon: 1 article (02/2015)
3.	Levine, Michael A: 1 article (02/2015)
4.	Li, Dong: 1 article (02/2015)
5.	Weber, David R: 1 article (02/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Metaphyseal anadysplasia:

1.	Nonsense Codon (Nonsense Mutation)IBA 02/01/2015 - "Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia."