Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach
Sign Up to like & getrecommendations! Published in 2020 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-020-00370-4
Abstract: Backgound Bartter’s syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle’s loop. Data sources Literature reviews and original research… read more here.
Keywords: findings genetic; bartter syndrome; clinical findings; genetic causes ... See more keywords
Ocular findings and genetic test in Alström syndrome in childhood.
Sign Up to like & getrecommendations! Published in 2022 at "Experimental eye research"
DOI: 10.2139/ssrn.4134470
Abstract: This study aimed to investigate the mutation spectrums and ocular features of Alström syndrome (AS) patients. Six AS patients from five unrelated families were included. Ocular and systemic examinations were performed in all subjects. Whole-exome… read more here.
Keywords: findings genetic; six patients; high hyperopia; ocular findings ... See more keywords