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Results 71 - 75 of 75 for Autosomal anomaly
  1. 10q26 deletion syndrome 
    ... overlapping deletions: delineating the critical region for urogenital anomalies. Am J Med Genet A. 2015 Apr;167A( ...
    https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome - Genetics
  2. WDR19 gene 
    ... NV, Roepman R, Arts HH. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the ... ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  3. Wolff-Parkinson-White syndrome 
    ... heart defect associated with the condition is Ebstein anomaly, which affects the valve that allows blood to ... familial form of the disorder typically has an autosomal dominant pattern of inheritance, which means one copy ...
    https://medlineplus.gov/.../condition/wolff-parkinson-white-syndrome - Genetics
  4. Multiple cutaneous and mucosal venous malformations 
    ... towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet. 2009 Apr 15;18(R1): ...
    https://medlineplus.gov/...utaneous-and-mucosal-venous-malformations - Genetics
  5. Noonan syndrome 
    ... Cave H, Verloes A. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
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