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Results 1 - 10 of 11 for FG syndrome 3
  1. MED12 gene 
    ... recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Apr;39(4):451-3. ... A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Clin Genet. 2011 Feb;79(2):183-8. ...
    https://medlineplus.gov/genetics/gene/med12 - Genetics
  2. TPM2 gene 
    ... SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. doi: 10.1086/368294. Citation on ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  3. ANTXR2 gene 
    ... hyaline fibromatosis. J Dermatol Sci. 2009 Sep;55(3):197-200. doi: ... hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
    https://medlineplus.gov/genetics/gene/antxr2 - Genetics
  4. FGFR3 gene 
    ... Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey ... 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  5. MYH3 gene 
    ... on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey ... 2016 Mar 4. Citation on PubMed
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  6. WASHC5 gene 
    ... MP, Hofmann A, Muller S, Schoser B, Hanisch FG, Rottbauer W, Blumcke I, von ... Chudley A. Ritscher-Schinzel Syndrome. 2020 Jan 23. In: Adam MP, Feldman J, ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  7. EFEMP2 gene 
    ... localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. ... JH, Keene DR, Bachinger HP, Hanisch FG, Markova D, Tsuda T, Timpl R, Chu ML, ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
  8. MAOA gene 
    ... Central Godar SC, Bortolato M, Richards SE, Li FG, Chen K, ... Hum Genet. 1998 Sep;103(3):273-9. doi: 10.1007/s004390050816. Citation on ...
    https://medlineplus.gov/genetics/gene/maoa - Genetics
  9. LHCGR gene 
    ... Condition MedlinePlus Genetics provides information about Polycystic ... M. LH receptor defects. Semin Reprod Med. 2002 Aug;20(3):199-204. doi: 10.1055/s-2002-35384. ...
    https://medlineplus.gov/genetics/gene/lhcgr - Genetics
  10. FLNA gene 
    ... This Health Condition MedlinePlus Genetics provides ... heterotopia. J Comp Neurol. 2006 Jan 20;494(3):476-84. doi: 10.1002/cne.20806. Citation ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
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