Unveiling the Clinicopathological and Molecular Spectrum of Fanconi Anaemia: Insights from a Single-Centre Experience.

نویسندگان
Siddiqui, Saima ID 1
din Ujjan, Ikram ID 2
khan, Safia mehmood ID 3
sheikh, affaf ID 4
Waryah, Ali ID 5
AHMED, shariq ID 6
Zahid, Danish ID 7

1 NIBD AND BMT HOSPITAL - National Institute of Blood diseases and Bone Marrow Transplantation, PECHS campus

2 Liaquat University of Medical and Health Sciences - Liaquat University of Medical and Health Sciences

3 National Institute of Blood diseases and Bone Marrow Transplantation, PECHS campus - National Institute of Blood diseases and Bone Marrow Transplantation, PECHS campus

4 National Institute of Blood diseases and Bone Marrow Transplantation, PECHS campus - National Institute of Blood diseases and Bone Marrow Transplantation, PECHS campus

5 Liaquat University of Medical and Health Sciences - Liaquat University of Medical and Health Sciences

6 NIBD AND BMT HOSPITAL - National Institute of Blood diseases and Bone Marrow Transplantation, PECHS campus

7 National Institute of Blood diseases and Bone Marrow Transplantation, PECHS campus - National Institute of Blood diseases and Bone Marrow Transplantation, PECHS campus

doi
10.18502/ijpho.v16i2.21348
چکیده

 Background: Fanconi anaemia (FA) is the most common cause of constitutional bone marrow failure. The pathophysiology of this disease is highly complex and still unclear. It is caused by a mutation/pathogenic variant in any of the 22 complementation groups that work together in the DNA damage repair mechanism. Approximately three-fourths of ...

کلیدواژه‌ها
Fanconi anemia, FANCA, genetic analysis, inherited marrow failure, next generation sequencing.