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Results 1 - 10 of 2,512 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. HGSNAT gene 
    ... AV. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet. 2006 Nov;79(5): ... FA. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The ... BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 ...
    https://medlineplus.gov/genetics/gene/hgsnat - Genetics
  4. 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
  5. 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
  6. MN1 gene 
    ... mutations are reflected in the condition name, MN1 C-terminal truncation syndrome.One mutation that has been found in multiple ... TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with ...
    https://medlineplus.gov/genetics/gene/mn1 - Genetics
  7. SPART gene 
    ... JC, Jupille H, Fatheddin P, Puertollano R, Blackstone C. Troyer syndrome protein spartin is mono-ubiquitinated and functions in ... Citation on PubMed Patel H, Cross H, Proukakis C, Hershberger R, Bork ... in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug; ...
    https://medlineplus.gov/genetics/gene/spart - Genetics
  8. 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
  9. VPS13B gene 
    ... 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/gene/vps13b - Genetics
  10. 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
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