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27 results
  1. ... gov Catalog of Genes and Diseases from OMIM DUANE-RADIAL RAY SYNDROME; DRRS Scientific Articles on PubMed PubMed References Al-Baradie R, Yamada K, St Hilaire C, ...
  2. ... SYNDROME 1; DURS1 DUANE RETRACTION SYNDROME 2; DURS2 DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3 Scientific Articles on PubMed PubMed References Appukuttan B, Gillanders E, Juo SH, Freas-Lutz ...
  3. ... ear defects [ Park et al 2016 ]. Table 6. Duane Syndrome: Notable Pathogenic Variants by Gene View in own window Gene 1 Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
  4. ... CHN1 Gene and Variant Databases NCBI Gene ClinVar References Angelini C, Trimouille A, Arveiler B, Espil-Taris C, Ichinose N, Lasseaux E, Tourdias T, Lacombe D. CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease. ...
  5. Learn about eye movement disorders, such as strabismus, where the eyes point in different directions, and nystagmus, which causes rapid eye movements. ...
  6. ... SALL4 Gene and Variant Databases NCBI Gene ClinVar References Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from ...
  7. ... posted live 1 March 2004 (jk) Original submission References Literature Cited Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from ...
  8. ... are included in the CCDDs. Other CCDDs include Duane syndrome, Moebius syndrome, and congenital facial palsy. Genetic disorders ... Disorder MOI Clinical Characteristics Chromosome 8 anomalies See Duane syndrome . Duane syndrome w/various assoc congenital abnormalities incl ...
  9. ... name >Duane retraction syndrome</other_name><other_name >Duane syndrome</other_name><other_name >Duane's syndrome</other_name><other_name >Ocular retraction syndrome</other_ ...
  10. ... 9 Klippel-Feil syndrome w/congenital perceptive deafness & Duane syndrome 10 Affected persons are almost exclusively female. AD = ... Mukherjee [2010] 9. Högen et al [2012] 10. Duane syndrome = abducens palsy with narrowing of the palpebral fissure ...
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