在一名患有多种先天性异常的婴儿中鉴定出一种导致范可尼贫血的新型变异体。
A novel variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.
作者信息
Geilmann Shelby, Solstad Rachel, Palmquist Rachel, Flores Daboub Josue, Botto Lorenzo D, Grubb Peter H, Bonkowsky Josh L, Longo Nicola, Malone Jenkins Sabrina
机构信息
School of Medicine University of Utah Salt Lake City Utah USA.
Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA.
出版信息
Clin Case Rep. 2023 Jan 19;11(1):e6810. doi: 10.1002/ccr3.6810. eCollection 2023 Jan.
Fanconi anemia, FA, is a rare, multi-system disease caused by pathogenic variants in DNA repair genes. We report a novel variant in an infant with FA whose tracheobronchomalacia has not been described in FA. His severe presentation expands the phenotype of -associated FA, reported only in three patients previously.
范可尼贫血（FA）是一种由DNA修复基因中的致病变异引起的罕见多系统疾病。我们报告了一名患有FA的婴儿中的一种新变异，其气管软化在FA中尚未有过描述。他的严重表现扩展了与FA相关的表型，此前仅在三名患者中报道过。
Zotero 插件