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Results 1 - 6 of 6 for Pierpont syndrome
  1. Spondylothoracic dysostosis 
    ... PubMed Central Karnes PS, Day D, Berry SA, Pierpont ME. Jarcho-Levin syndrome: four new cases and classification of subtypes. Am ...
    https://medlineplus.gov/.../condition/spondylothoracic-dysostosis - Genetics
  2. Char syndrome 
    ... or Free article on PubMed Central Satoda M, Pierpont ME, Diaz GA, Bornemeier RA, Gelb BD. Char syndrome, an inherited disorder with patent ductus arteriosus, maps ...
    https://medlineplus.gov/genetics/condition/char-syndrome - Genetics
  3. Noonan syndrome 
    ... Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  4. 19p13.13 deletion syndrome 
    ... available. Citation on PubMed Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B. A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med. 2010 Aug;12( ...
    https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome - Genetics
  5. Bannayan-Riley-Ruvalcaba syndrome 
    ... Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of ...
    https://medlineplus.gov/.../bannayan-riley-ruvalcaba-syndrome - Genetics
  6. Holt-Oram syndrome 
    ... Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov;58(5):981-6. ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics