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Results 1 - 10 of 12 for Marshall syndrome
  1. COL11A1 gene 
    ... Variants in the COL11A1 gene can also cause Marshall syndrome, a condition that is very similar to Stickler syndrome. Some researchers have classified Marshall syndrome as a variant of Stickler syndrome, while others ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  2. EZH2 gene 
    ... gene mutations have been identified in people with Weaver syndrome, which involves tall stature, a variable degree of ... Most of the EZH2 gene mutations associated with Weaver syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/ezh2 - Genetics
  3. SHANK3 gene 
    ... Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 ...
    https://medlineplus.gov/genetics/gene/shank3 - Genetics
  4. ALMS1 gene 
    ... ASSOCIATED PROTEIN; ALMS1 NCBI Gene ClinVar ... ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet. 2002 May;31(1):74-8. ...
    https://medlineplus.gov/genetics/gene/alms1 - Genetics
  5. WNT5A gene 
    ... PubMed Central Roifman M, Marcelis CL, Paton T, Marshall C, ... Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. ...
    https://medlineplus.gov/genetics/gene/wnt5a - Genetics
  6. ANKRD11 gene 
    ... AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. 2010 Apr;18(4): ...
    https://medlineplus.gov/genetics/gene/ankrd11 - Genetics
  7. PACS1 gene 
    ... Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet ...
    https://medlineplus.gov/genetics/gene/pacs1 - Genetics
  8. COLEC11 gene 
    ... Furze CM, Gingras AR, Yoshizaki T, Ohtani K, Marshall JE, Wallis AK, Schwaeble WJ, El-Mezgueldi M, Mitchell DA, Moody PC, Wakamiya N, Wallis R. Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. BMC Biol. 2015 Apr 17;13:27. doi: ...
    https://medlineplus.gov/genetics/gene/colec11 - Genetics
  9. UBE3A gene 
    ... Noor A, Dupuis L, Mittal K, Lionel AC, Marshall CR, Scherer SW, Stockley T, ... syndrome protein UBE3A interacts with primary microcephaly protein ASPM, ...
    https://medlineplus.gov/genetics/gene/ube3a - Genetics
  10. XK gene 
    ... of XK PubMed ... WA, Oechsner M, Kalckreuth W, Watt JM, Corbett AJ, Hamdalla HH, Marshall AG, Sutton I, Dotti MT, Malandrini A, Walker ...
    https://medlineplus.gov/genetics/gene/xk - Genetics
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