The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review

• Hoofdauteurs: Shiqiu Xiong (Auteur), Yang Jia (Auteur), Shijun Li (Auteur), Peng Huang (Auteur), Jie Xiong (Auteur), Dingan Mao (Auteur), Qingnan He (Auteur), Liqun Liu (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2021-07-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide. We present the first Chinese family of XLSA/A with novel ABCB7 gene mutation (c.2024A > G) and make a retrospec...