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Results 1 - 10 of 17 for Syndromic disease
  1. USH2A gene 
    ... patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J ... EL. Disease course in patients with autosomal recessive retinitis pigmentosa ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  2. HDAC8 gene 
    ... it may actually be part of the same disease spectrum as Cornelia de Lange syndrome (described above). CDA07 ... NCBI Gene ClinVar Deardorff ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  3. RPGR gene 
    ... Ramsden S, Wright AF. RPGR mutation analysis and disease: an update. Hum Mutat. 2007 Apr;28(4): ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  4. FGFR2 gene 
    ... M. Therapeutics Targeting FGF Signaling Network in Human Diseases. Trends ... with syndromic craniosynostoses indicates that a limited number of recurrent ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  5. COL11A2 gene 
    ... that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug; ... RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  6. SKIC3 gene 
    ... J, Levy N, Badens C. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. ... A, Martinez-Vinson C, Goulet O, Badens C. Syndromic diarrhea/Tricho-hepato-enteric syndrome. Orphanet J Rare ...
    https://medlineplus.gov/genetics/gene/skic3 - Genetics
  7. SKIC2 gene 
    ... J, Levy N, Badens C. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. ... A, Martinez-Vinson C, Goulet O, Badens C. Syndromic diarrhea/Tricho-hepato-enteric syndrome. Orphanet J Rare ...
    https://medlineplus.gov/genetics/gene/skic2 - Genetics
  8. NPHP1 gene 
    ... Bernstein PS, Baehr W. Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  9. PHOX2B gene 
    ... differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome. Hum Mutat. 2018 Feb; ...
    https://medlineplus.gov/genetics/gene/phox2b - Genetics
  10. GJB2 gene 
    ... hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss. Front Cell Neurosci. 2014 Oct 27; ... in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828( ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
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