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Results 1 - 8 of 8 for Primary pulmonary hypoplasia
  1. FLCN gene 
    ... a loss of folliculin increases the risk of lung abnormalities that are often associated with Birt-Hogg-Dubé syndrome. More About This Health Condition At least eight mutations in the FLCN gene have been found to cause primary spontaneous pneumothorax. This condition occurs when air builds ...
    https://medlineplus.gov/genetics/gene/flcn - Genetics
  2. COL2A1 gene 
    ... and legs, a small chest with underdeveloped lungs (lung hypoplasia), and a lack of normal bone formation (ossification) ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. EIF2AK4 gene 
    ... absence of EIF2AK4 protein function leads to the pulmonary vein abnormalities characteristic of PVOD. More About This Health Condition MedlinePlus Genetics provides information about Pulmonary arterial hypertension More About This Health Condition E2AK4_ ...
    https://medlineplus.gov/genetics/gene/eif2ak4 - Genetics
  4. SMARCA4 gene 
    ... analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors. Hum Mutat. 2011 Feb;32(2):E1999- ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  5. WNT4 gene 
    ... WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and mullerian duct abnormalities: a French collaborative study. J Clin Endocrinol Metab. ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics
  6. FOXC2 gene 
    ... Consortium. Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. ...
    https://medlineplus.gov/genetics/gene/foxc2 - Genetics
  7. LRP2 gene 
    ... and cholesterol in the blood. LDLs are the primary carriers of cholesterol in the blood. Cholesterol is ...
    https://medlineplus.gov/genetics/gene/lrp2 - Genetics
  8. LIMK1 gene 
    ... of Golgi-derived vesicles, and process extension in primary cultured neurons. Mol Biol Cell. 2004 Jul;15( ...
    https://medlineplus.gov/genetics/gene/limk1 - Genetics