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Results 1 - 10 of 54 for Abnormal embryonic development
  1. CHD7 gene 
    ... these mutations lead to the production of an abnormal CHD7 protein that is broken ... embryonic development likely cause the signs and symptoms of CHARGE ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  2. SOX10 gene 
    ... prevent the gene from making any protein. An abnormal or missing SOX10 protein ... embryonic development. Missing enteric nerves in certain parts of the ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  3. DLL3 gene 
    ... Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet. 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/gene/dll3 - Genetics
  4. GNAS gene 
    ... AMP (cAMP). An excess of cAMP may trigger abnormal cell growth and lead to ... early in embryonic development. Cells with the mutated GNAS gene can be ...
    https://medlineplus.gov/genetics/gene/gnas - Genetics
  5. SIX5 gene 
    ... necessary for the activation of certain genes during embryonic development, it is possible that the altered SIX5 protein disrupts development before birth. The major signs and symptoms of BOR syndrome result from abnormal development of the second branchial arch, ears, and ...
    https://medlineplus.gov/genetics/gene/six5 - Genetics
  6. EYA1 gene 
    ... necessary for the activation of certain genes during embryonic development, the altered EYA1 protein impairs the normal development of many tissues before birth. The major signs and symptoms of BOR/BO syndrome result from abnormal development of the second branchial arch, the ears, ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  7. SIX1 gene 
    ... the SIX1 protein to regulate gene activity during embryonic development. When the SIX1 protein is faulty, it impairs the normal development of many tissues before birth. The major signs and symptoms of BOR/BO syndrome result from abnormal development of the second branchial arch, the ears, ...
    https://medlineplus.gov/genetics/gene/six1 - Genetics
  8. PIK3R2 gene 
    ... developing brain. The increased number of cells causes abnormal development ... point during embryonic development. As cells continue to grow and divide, ...
    https://medlineplus.gov/genetics/gene/pik3r2 - Genetics
  9. PITX1 gene 
    ... the base of the brain, and in an embryonic structure called the branchial arch. The PITX1 ... by abnormal development of the arms, resulting in short fingers (brachydactyly), ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  10. PAX8 gene 
    ... in the formation of tissues and organs during embryonic development. The PAX gene family is also important for ... action, PAX proteins are called transcription factors.During embryonic development, the PAX8 protein is thought to activate genes ...
    https://medlineplus.gov/genetics/gene/pax8 - Genetics
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