... dRTA with deafness AR dRTA with hearing loss Autosomal recessive distal renal tubular acidosis with deafness Renal tubular acidosis type 1b Renal ... nerve deafness Genetic and Rare Diseases Information Center Autosomal ... Patient Support and Advocacy Resources National Organization for ...

... of AE1 protein in the cell membrane. In autosomal recessive distal renal tubular acidosis, both copies of the SLC4A1 gene are mutated, ... disorder in their family. Less commonly, SLC4A1 -associated distal renal ... autosomal recessive pattern of inheritance , which means a mutation must ...

... Autosomal recessive deafness-onychodystrophy syndrome, see DOORS syndrome Autosomal recessive distal renal tubular acidosis with deafness, see Renal tubular acidosis with deafness ...

... synonym >AR dRTA with hearing loss</synonym><synonym >Autosomal recessive distal renal tubular acidosis with deafness</synonym><synonym >Renal tubular acidosis type ...

... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med ... G, Jeunemaitre X, Blanchard A. Genetic investigation of autosomal recessive ... acidosis: evidence for early sensorineural hearing loss associated with ...

... dRTA with hearing loss</other_name><other_name >Autosomal recessive distal renal tubular acidosis with deafness</other_name><other_name >RTA with ...

... the correct part of the cell membrane. In autosomal recessive SLC4A1 -associated distal renal tubular acidosis, both copies of the SLC4A1 gene are mutated, ...

... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med ...

... Renal tubular acidosis with deafness Renal tubular acidosis, autosomal recessive, with progressive nerve deafness, see Renal tubular acidosis with deafness Renal tubular acidosis, distal, with progressive nerve deafness, see Renal tubular acidosis ...