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Results 1 - 8 of 8 for sox9
  1. SOX9 gene 
    The SOX9 gene provides instructions for making a protein that plays a critical role during embryonic development. The SOX9 protein is especially important ...
    https://medlineplus.gov/genetics/gene/sox9 - Genetics
  2. Isolated Pierre Robin sequence 
    ... 000 people. Changes in the DNA near the SOX9 gene are the most common genetic cause of ... some cases of isolated Pierre Robin sequence.The SOX9 gene provides instructions for making a protein that ...
    https://medlineplus.gov/.../condition/isolated-pierre-robin-sequence - Genetics
  3. Campomelic dysplasia 
    ... 200,000 people. Mutations in or near the SOX9 gene cause campomelic dysplasia. This gene provides instructions ... different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  4. Can changes in noncoding DNA affect health and development?: MedlinePlus Genetics 
    ... Pierre-Robin sequence control the activity of the SOX9 gene. In addition to enhancer elements, variants in ... novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat. ...
    https://medlineplus.gov/.../noncondingdnahealth - Genetics
  5. 46,XX testicular difference of sex development 
    ... are people with the SRY-positive form. NR5A1 SOX9 SRY WT1 x chromosome y chromosome Additional Information ... variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder ...
    https://medlineplus.gov/...-testicular-difference-of-sex-development - Genetics
  6. Swyer syndrome 
    ... associated with this condition. DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY Additional Information from NCBI Gene: CBX2 DHX37 ... H. Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/beta-catenin signaling. Hum Mol ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  7. Campomelic dysplasia From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Birth Defects/Specifics ... Birth Defects ... Bone Diseases/Children ... Bone Diseases ... Find symptoms and other information about Campomelic dysplasia. ... Genetic and Rare ...
    https://rarediseases.info.nih.gov/.../10027/campomelic-dysplasia - External Health Links
  8. MAP3K1 gene 
    ... H. Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/beta-catenin signaling. Hum Mol ...
    https://medlineplus.gov/genetics/gene/map3k1 - Genetics