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Results 1 - 5 of 5 for "Melnick-Fraser" syndrome
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  1. ... syndrome Branchiootorenal dysplasia Branchiootorenal spectrum disorders Branchiootorenal syndrome Melnick-Fraser syndrome Genetic Testing Registry: Branchiootic syndrome 3 Genetic Testing ...
  2. ... Cucci RA, Vervoort VS, Schwartz CE, Smith RJ. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic ... genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 ...
  3. ... WJ, Smith RJ. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. ... genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 ...
  4. ... Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007 Apr;80(4): ... genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 ...
  5. ... RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney or urinary tract abnormalities in ...