Zobrazeno 1 - 1
of 1
pro vyhledávání: '"digenic multisystem disorder"'
Autor:
Bomi Lim, Anna Cho, Jaehyun Kim, Sang Mee Hwang, Soo Yeon Kim, Jong-Hee Chae, Hyoung Soo Choi
Publikováno v:
Clinical Pediatric Hematology-Oncology, Vol 31, Iss 2, Pp 52-55 (2024)
Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the
Externí odkaz:
https://doaj.org/article/4cd387db0ade4062bb4289f576ad3f11
