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Results 1 - 10 of 675 for C syndrome
  1. MN1 C-terminal truncation syndrome 
    ... mutations are reflected in the condition name, MN1 C-terminal truncation syndrome.Research shows that a shortened MN1 protein cannot ... TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  2. Bohring-Opitz syndrome 
    ... is known as mosaicism. Bohring syndrome BOPS BOS C-like syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome Genetic ... A, van Bon BW, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, ... in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011 Jun 26;43(8):729- ...
    https://medlineplus.gov/genetics/condition/bohring-opitz-syndrome - Genetics
  3. Wolfram syndrome 
    ... article on PubMed Central Rigoli L, Di Bella C. Wolfram syndrome 1 and Wolfram syndrome 2. Curr Opin Pediatr. ... on PubMed Rigoli L, Lombardo F, Di Bella C. Wolfram syndrome and WFS1 gene. Clin Genet. 2011 Feb;79( ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  4. Brugada syndrome 
    ... Aug;2(8):905. Citation on PubMed Antzelevitch C. Brugada syndrome: clinical, genetic, molecular, cellular and ionic aspects. Expert ... Free article on PubMed Central Francis J, Antzelevitch C. Brugada syndrome. Int J Cardiol. 2005 May 25;101(2): ...
    https://medlineplus.gov/genetics/condition/brugada-syndrome - Genetics
  5. Cohen syndrome 
    ... Solary E, Faivre L, Foulquier F, Thauvin-Robinet C. Cohen syndrome is associated with major glycosylation defects. Hum Mol ... on PubMed Central Wang H, Falk MJ, Wensel C, Traboulsi EI. Cohen Syndrome. 2006 Aug 29 [updated 2016 Jul 21]. In: ...
    https://medlineplus.gov/genetics/condition/cohen-syndrome - Genetics
  6. Cowden syndrome 
    ... CD Cowden disease Cowden's disease Cowden's syndrome CS MHAM Multiple hamartoma syndrome Genetic Testing Registry: Cowden syndrome Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/cowden-syndrome - Genetics
  7. Carpenter syndrome 
    ... Citation on PubMed Hidestrand P, Vasconez H, Cottrill C. Carpenter syndrome. J Craniofac Surg. 2009 Jan;20(1):254- ... MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense- ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  8. Muenke syndrome 
    ... Zampino G, Tamburrini G, Caldarelli M, Di Rocco C. Muenke syndrome. Childs Nerv Syst. 2004 May;20(5):297- ...
    https://medlineplus.gov/genetics/condition/muenke-syndrome - Genetics
  9. Troyer syndrome 
    ... JC, Jupille H, Fatheddin P, Puertollano R, Blackstone C. Troyer syndrome protein spartin is mono-ubiquitinated and functions in ... Epub 2002 Jul 22. Citation on PubMed Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Troyer syndrome revisited. A clinical and radiological study of a ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  10. CHARGE syndrome 
    ... Mar 4. Citation on PubMed Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis. 2006 Sep 7;1: ... S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, ... CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
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