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"Melnick-Fraser" syndrome
Did you mean "merrick-laser" syndrome?
- ... syndrome Branchiootorenal dysplasia Branchiootorenal spectrum disorders Branchiootorenal syndrome Melnick-Fraser syndrome Genetic Testing Registry: Branchiootic syndrome 3 Genetic Testing ...
- Birth Defects/Specifics ... Birth Defects ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health
- ... 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 ...
- ... 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 ...
- ... 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 ...
- 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 ...
- ... RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney or urinary tract abnormalities in ...