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17 results
  1. Epidermolysis bullosa with pyloric atresia: MedlinePlus Genetics 
    https://medlineplus.gov/...pidermolysis-bullosa-with-pyloric-atresia
    ... alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997 May;6(5):669- ...
  2. Epidermolysis Bullosa with Pyloric Atresia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1157
    ... alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997b; 6 :669–74. [ PubMed : 9158140 ] Pulkkinen L, Kurtz K, Xu Y, Bruckner-Tuderman L, Uitto J. ... bullosa associated with congenital localized absence of skin, fetal abdominal mass, and ...
  3. ITGA6 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/itga6
    ... alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997 May;6(5):669- ...
  4. Birth Defects 
    https://medlineplus.gov/birthdefects.html
    ... Annular pancreas Clubfoot Clubfoot repair Clubfoot repair - ... atresia Fusion of the ear bones Gastroschisis repair Gastroschisis ...
  5. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... shape: dysplastic, narrow ear canal, abnormal pinna (10%) Congenital ... tracheoesophageal fistula, annular pancreas, malrotation Central ...
  6. Congenital Contractural Arachnodactyly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1386
    ... related to contractures & muscular hypotonia Cardiovascular Assess ... or esophageal atresia & intestinal malrotation Respiratory ...
  7. Duodenal atresia 
    https://medlineplus.gov/ency/article/001131.htm
    ... tube (IV, into a vein). Checking for other congenital anomalies should be ... (such as those related to Down syndrome) must be treated as appropriate.
  8. Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5192
    ... to food entrapment and typically involve intermittent dysphagia. Congenital short esophagus. An abnormally short esophagus accompanied by an intrathoracic ... defects Fanconi ...
  9. Myhre Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK425723
    ... and/or renal arteries) (7%) Of note, complex congenital heart defects are ... atresia 3/54 (6%) Late-onset pyloric stenosis [L ...
  10. Quadruple screen test 
    https://medlineplus.gov/ency/article/007311.htm
    ... baby's intestines or other nearby organs (such as duodenal atresia ) Death ... a problem such as: Down syndrome (trisomy 21) Edwards syndrome (trisomy 18)
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