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Results 1 - 10 of 54 for Congenital defect
  1. ATP6V0A2 gene 
    ... autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet. 2008 Jan; ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - 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. 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
  4. AMACR gene 
    ... RM Tests of AMACR PubMed BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 ALPHA-METHYLACYL-CoA RACEMASE; AMACR NCBI ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics
  5. AKR1D1 gene 
    ... the AKR1D1 gene have been found to cause congenital bile acid synthesis defect type 2. This condition is characterized by cholestasis, ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 2. More About This Health Condition 3- ...
    https://medlineplus.gov/genetics/gene/akr1d1 - Genetics
  6. HSD3B7 gene 
    ... the HSD3B7 gene have been found to cause congenital bile acid synthesis defect type 1. This condition is characterized by cholestasis, ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 1. More About This Health Condition 3 ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  7. F10 gene 
    ... Lombardi AM. Persistent validity of a classification of congenital factor X defects based on clotting, chromogenic and immunological assays even in the molecular biology era. Haemophilia. 2011 Jan;17(1):17-20. doi: ... patients with congenital factor X deficiency. Haematologica. 2008 Jun;93(6): ...
    https://medlineplus.gov/genetics/gene/f10 - Genetics
  8. LBR gene 
    ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  9. TPO gene 
    ... mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. Hum Mutat. 2003 Sep;22(3):259. doi: ...
    https://medlineplus.gov/genetics/gene/tpo - 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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