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105 results
  1. CFTR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cftr
    ... the normal function of organs such as the lungs and pancreas. Health Conditions Related to Genetic Changes Congenital bilateral absence of the vas deferens About 80 CFTR mutations ...
  2. Absent pulmonary valve 
    https://medlineplus.gov/ency/article/007314.htm
    ... through this valve from the heart to the lungs, where it picks up fresh oxygen. This condition is present at birth (congenital). ... Absent pulmonary valve syndrome; Congenital absence of the pulmonary valve; ... heart disease - pulmonary valve; Birth defect heart - pulmonary valve
  3. Cystic Fibrosis and Congenital Absence of the Vas Deferens - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1250
    ... or SCNN1G pathogenic variants may also have mild lung disease and elevated sweat chloride ... Absence of the Vas Deferens (CAVD) CAVD is part ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... the normal function of organs such as the lungs and ... bilateral absence of the vas deferens</name><ghr-page >https:// ...
  5. Congenital diaphragmatic hernia: MedlinePlus Genetics 
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia
    ... sensitive information only on official, secure websites. ... cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the ...
  6. NKX2-1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK185066
    ... Chen et al 2015 ] and non-small cell lung cancer [ Inoue et al 2015 ]. ... or hemi-agenesis (11/31) and complete absence of the thyroid (3/31) [ Carré et al ...
  7. BCL11A-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547048
    ... al 2009 ]. Congenital malformations (genitourinary anomalies and/or ... as single tumors in the absence of any other findings of BCL11A -related intellectual ...
  8. NSDHL-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51754
    ... and a single coronary ostium [ Tang & McCreadie 1974 ]. Lung ... thrombocytosis and congenital bilateral dislocation of the hip [ Chander et al ...
  9. Congenital Central Hypoventilation Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1427
    ... updated statement on the diagnosis and management of congenital central ... even in the absence of Hirschsprung disease; profuse sweating; reduced basal body ...
  10. Cystic fibrosis: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/cystic-fibrosis
    ... reproductive systems. Most men with cystic fibrosis have congenital bilateral ... the passageways of the lungs, pancreas, and other organs produce mucus that is ...
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