Combined Alport syndrome, Klinefelter syndrome and Fanconi syndrome in a Chinese boy
Sign Up to like & getrecommendations! Published in 2023 at "Nephrology"
DOI: 10.1111/nep.14152
Abstract: Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X‐linked dominant (XLAS) is the major inheritance form, accounting for almost 80% of the cases, caused by mutations in COL4A5… read more here.
Keywords: klinefelter syndrome; alport syndrome; chinese boy; fanconi syndrome ... See more keywords
A case of keratosis circumscripta in a Chinese boy
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Dermatology"
DOI: 10.1111/pde.13365
Abstract: Keratosis circumscripta is a rare dermatosis occurring in children and adolescents that has been reported in the English literature only in Africans and their descendants. We report here a case of keratosis circumscripta in a… read more here.
Keywords: chinese boy; keratosis circumscripta; case keratosis; circumscripta ... See more keywords
Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report
Sign Up to like & getrecommendations! Published in 2020 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v8.i24.6465
Abstract: BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay. BRPS is caused by a heterozygous loss-of-function mutation in the ASXL3 gene. Due to limited knowledge… read more here.
Keywords: asxl3 gene; chinese boy; brps; mutation ... See more keywords