Article
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.
American journal of human genetics - 1 Feb 1998
Brennan T M, Landau D, Shalev H, Lamb F, Schutte B C, Walder R Y, Mark A L, Carmi R, Sheffield V C
Abstract excerpt
Bartter syndrome (BS) is a family of disorders manifested by hypokalemic hypochloremic metabolic alkalosis with normotensive hyperreninemic hyperaldosteronism. We evaluated a unique, inbred Bedouin kindred in which sensorineural deafness (SND) cosegregates with an infantile variant of the BS phenotype. Using a DNA-pooling strategy, we screened the human genome and successfully demonstrated linkage of this unique...
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