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Results 1 - 10 of 12 for Chandler syndrome
  1. OBSL1 gene 
    ... Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol ...
    https://medlineplus.gov/genetics/gene/obsl1 - Genetics
  2. CUL7 gene 
    ... Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol ...
    https://medlineplus.gov/genetics/gene/cul7 - Genetics
  3. VPS13B gene 
    ... on PubMed Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Traskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Cohen syndrome is caused by mutations in a novel gene, ...
    https://medlineplus.gov/genetics/gene/vps13b - Genetics
  4. KAT6B gene 
    ... Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, ... variant of Ohdo syndrome. Am J Hum Genet. 2011 Nov 11;89( ...
    https://medlineplus.gov/genetics/gene/kat6b - Genetics
  5. DOCK8 gene 
    ... Garcia JA, Mandl JN, Grodick RA, Jing H, Chandler-Brown DB, Lenardo TE, Crawford G, ... in DOCK8 Immunodeficiency Syndrome. J Clin Immunol. 2016 Jul;36(5):441- ...
    https://medlineplus.gov/genetics/gene/dock8 - Genetics
  6. SMC3 gene 
    ... J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, ... de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and ...
    https://medlineplus.gov/genetics/gene/smc3 - Genetics
  7. TREX1 gene 
    ... Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De ... associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  8. RNASEH2A gene 
    ... Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De ... associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics
  9. SAMHD1 gene 
    ... Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De ... associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  10. CHST3 gene 
    ... by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and ... N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics