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Results 1 - 7 of 7 for robin syndrome
  1. VPS13B gene 
    ... Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Traskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Cohen syndrome in the Ohio Amish. Am J Med Genet ...
    https://medlineplus.gov/genetics/gene/vps13b - Genetics
  2. TREX1 gene 
    ... Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Apr;80(4): ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  3. NIPBL gene 
    ... mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet. 2004 ... L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del ...
    https://medlineplus.gov/genetics/gene/nipbl - Genetics
  4. SOX9 gene 
    ... SOX9 gene cause some cases of isolated Pierre Robin sequence. Individuals with this condition have a small ... mouth (a cleft palate). These cases of Pierre Robin sequence are described as isolated because they occur ...
    https://medlineplus.gov/genetics/gene/sox9 - Genetics
  5. GLI3 gene 
    ... McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy ...
    https://medlineplus.gov/genetics/gene/gli3 - Genetics
  6. BUB1B gene 
    ... Fitzpatrick D, Kidd A, Mehes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum ... in seven families with premature chromatid separation (PCS) syndrome. Am J Med Genet A. 2006 Feb 15; ...
    https://medlineplus.gov/genetics/gene/bub1b - Genetics
  7. STXBP1 gene 
    ... P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances ... mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
    https://medlineplus.gov/genetics/gene/stxbp1 - Genetics