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Results 1 - 8 of 8 for Chandler syndrome
  1. 3-M syndrome 
    ... 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/condition/3-m-syndrome - Genetics
  2. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... CCFDN PubMed Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  3. Cohen syndrome 
    ... 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/condition/cohen-syndrome - Genetics
  4. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... 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/...ay-barber-biesecker-young-simpson-variant - Genetics
  5. DOCK8 immunodeficiency syndrome 
    ... 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/.../dock8-immunodeficiency-syndrome - Genetics
  6. Aicardi-Goutières syndrome 
    ... 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/.../condition/aicardi-goutieres-syndrome - Genetics
  7. PURA syndrome 
    ... Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, ... D. PURA syndrome: clinical delineation and genotype-phenotype study in 32 ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  8. CHST3-related skeletal dysplasia 
    ... 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/.../chst3-related-skeletal-dysplasia - Genetics