title: The case | Renal tubular acidosis and eye findings.
authors: Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
authors: Jameela A
authors: JA
authors: Kari
authors: Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
authors: Sherif M
authors: SM
authors: El Desoky
authors: Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
authors: Ajay K
authors: AK
authors: Singh
authors: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
authors: Mamdooh A
authors: MA
authors: Gari
authors: UCL Institute of Child Health, London, UK.
authors: Robert
authors: R
authors: Kleta
authors: UCL Institute of Child Health, London, UK.
authors: Detlef
authors: D
authors: Bockenhauer
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis* / Q000235:genetics; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D003318:Corneal Opacity / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D005260:Female; D006720:Homozygote; D006801:Humans; D012008:Recurrence; D017384:Sequence Deletion; D027982:Sodium-Bicarbonate Symporters / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: C498898:SLC4A4 protein, human; D027982:Sodium-Bicarbonate Symporters