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Results 1 - 9 of 9 for Branchiooculofacial syndrome
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  1. Branchio-oculo-facial syndrome 
    ... pseudocleft-hemagiomatous branchial cyst syndrome Genetic Testing Registry: Branchiooculofacial syndrome Branchio-oculo-facial syndrome National Organization for Rare ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  2. Branchiootorenal/branchiootic syndrome 
    ... their family. BO syndrome BOR BOR syndrome BOS Branchio-oto-renal syndrome Branchio-otorenal dysplasia Branchio-otorenal syndrome Branchiootic syndrome ...
    https://medlineplus.gov/.../branchiootorenal-branchiootic-syndrome - Genetics
  3. Branchio-oto-renal Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Birth Defects/Specifics ... Birth Defects ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health
    https://rarediseases.info.nih.gov/diseases/10147/bor-syndrome - External Health Links
  4. 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
  5. 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
  6. 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
  7. 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
  8. Birth Defects (National Library of Medicine)  
    What are birth defects? A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the ...
    https://medlineplus.gov/birthdefects.html - Health Topics
  9. Congenital anomalies of kidney and urinary tract 
    ... RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney or urinary tract abnormalities in ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics