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Results 1 - 4 of 4 for Branchiooculofacial syndrome
Did you mean "branchio oculofacial" syndrome?
  1. TFAP2A gene 
    ... PubMed Lin AE, Haldeman-Englert CR, Milunsky JM. Branchiooculofacial Syndrome. 2011 May 31 [updated 2023 Sep 28]. In: ...
    https://medlineplus.gov/genetics/gene/tfap2a - Genetics
  2. EYA1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  3. SIX1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/six1 - Genetics
  4. SIX5 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/six5 - Genetics