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Results 1 - 10 of 70 for castro syndrome
  1. KBG syndrome 
    ... PubMed or Free article on PubMed Central Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. Am J Med Genet ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  2. RAB27A gene 
    ... 16. Citation on PubMed Bizario JC, Feldmann J, Castro FA, Menasche G, Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM. Griscelli syndrome: characterization of a new mutation and rescue of ...
    https://medlineplus.gov/genetics/gene/rab27a - Genetics
  3. LPIN2 gene 
    ... GA, Johnson KA, Bichell L, Marrero B, De Castro LF, Huang Y, Calvo KR, Collins MT, Ganesan S, Chernomordik LV, Ferguson PJ, Goldbach-Mansky R. Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory ...
    https://medlineplus.gov/genetics/gene/lpin2 - Genetics
  4. Majeed syndrome 
    ... GA, Johnson KA, Bichell L, Marrero B, De Castro LF, Huang Y, Calvo KR, Collins MT, Ganesan S, Chernomordik LV, Ferguson PJ, Goldbach-Mansky R. Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory ...
    https://medlineplus.gov/genetics/condition/majeed-syndrome - Genetics
  5. Griscelli syndrome 
    ... article on PubMed Central Bizario JC, Feldmann J, Castro FA, Menasche G, Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM. Griscelli syndrome: characterization of a new mutation and rescue of ...
    https://medlineplus.gov/genetics/condition/griscelli-syndrome - Genetics
  6. ANOS1 gene 
    ... Epub 2010 Apr 8. Citation on PubMed de Castro F, Esteban PF, Bribian A, Murcia-Belmonte V, Garcia-Gonzalez D, Clemente D. The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond. Adv Neurobiol. 2014;8:273-92. ...
    https://medlineplus.gov/genetics/gene/anos1 - Genetics
  7. ANKRD11 gene 
    ... R, Moffat M, Verbeek NE, Bjorgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet. 2015 Feb;134(2):181-90. ...
    https://medlineplus.gov/genetics/gene/ankrd11 - Genetics
  8. DICER1 syndrome 
    ... 2011 Jan 25. Citation on PubMed Yin Y, Castro AM, Hoekstra M, Yan TJ, ... or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/dicer1-syndrome - Genetics
  9. Dopa-responsive dystonia 
    ... NORD) ClinicalTrials.gov DYSTONIA, DOPA-RESPONSIVE; DRD SEGAWA SYNDROME, AUTOSOMAL RECESSIVE DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY PubMed Arrabal L, Teresa L, Sanchez-Alcudia R, Castro M, Medrano C, Gutierrez-Solana L, Roldan S, ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  10. SOX11 gene 
    ... I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, ... with features of Coffin-Siris syndrome. J Med Genet. 2016 Mar;53(3):152- ...
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
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