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Results 1 - 10 of 19 for Congenital heart defect
  1. MED13L gene 
    ... or heart abnormalities that are present from birth (congenital heart defects).Some MED13L gene mutations insert or delete regions ... changes of MED13L further delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet. 2013 ...
    https://medlineplus.gov/genetics/gene/med13l - Genetics
  2. MYH6 gene 
    ... to cause several additional heart conditions. These include congenital heart defects, particularly atrial-septal defect (ASD), which is a ... MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet. 2010 Oct 15;19(20): ...
    https://medlineplus.gov/genetics/gene/myh6 - Genetics
  3. MKKS gene 
    ... LM, Sheffield VC, Slusarski DC. Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  4. AFF4 gene 
    ... involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  5. NOTCH1 gene 
    ... Condition NOTCH1 gene mutations are involved in ... Some of the heart defects involve structures within the heart itself, such as ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  6. JAG1 gene 
    ... some affected individuals have a particular combination of heart defects known as tetralogy of ... More About This Health Condition Increased ...
    https://medlineplus.gov/genetics/gene/jag1 - Genetics
  7. WT1 gene 
    ... develop normally. Individuals with Meacham syndrome typically have heart ... a congenital diaphragmatic hernia. Meacham syndrome is typically fatal in ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
  8. BRAF gene 
    ... can lead to melanoma in people with giant congenital melanocytic nevus. More About This ... spots (lentigines), heart defects, short stature, a sunken or protruding chest, and ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  9. GJA1 gene 
    ... Health Condition MedlinePlus Genetics provides information about Critical congenital heart disease More About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  10. NSDHL gene 
    ... the NSDHL gene have been found to cause congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). Most of these mutations change single ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
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