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Results 1 - 8 of 8 for Atelosteogenesis type 2
  1. Atelosteogenesis type 2 
    Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2 - Genetics
  2. SLC26A2 gene 
    ... gene mutations have been identified in people with atelosteogenesis type 2, another severe disorder of cartilage and bone development. ... any functional protein.One common mutation that causes atelosteogenesis type 2 replaces the amino acid arginine with the amino ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  3. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  4. Dwarfism (National Library of Medicine)  
    People with dwarfism have short stature. This means that their height is under 4' 10" as an adult. They are usually of normal intelligence. Dwarfism most often ...
    https://medlineplus.gov/dwarfism.html - Health Topics
  5. Diastrophic dysplasia 
    ... similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. ...
    https://medlineplus.gov/genetics/condition/diastrophic-dysplasia - Genetics
  6. Atelosteogenesis type 3 
    ... sici)1096-8628(19990305)83:13.0.co;2-g. Citation on PubMed
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3 - Genetics
  7. FLNB gene 
    ... and leading to the signs and symptoms of atelosteogenesis type 3. More About This Health Condition At least two FLNB gene mutations have been identified that cause ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  8. Atelosteogenesis type 1 
    ... type I National Organization for Rare Disorders (NORD) ... JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in atelosteogenesis I and ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics