Fanconi anemia is a clinically heterogeneous disorder mainly characterized by progressive bone marrow failure, predisposition to cancer, and a broad range of congenital anomalies. In about 50鈥 % of patients, upper limb anomalies are present that typically present as defects of the radial ray, ...
Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by aplastic anemia, progressive pancytopenia, congenital anomalies such as short stature, hypoplastic thumbs, café-au-lait spots, cardiac and renal anomalies, and increased risk of cancer development (Alter, 2014; Auerbach...
FANCONI ANEMIA (FA) is an autosomal recessive disease characterized by developmental abnormalities (thumb and radius hypoplasia, microcephaly, growth delay, and kidney abnormalities), hyperpigmentation of the skin (cafέ-au-lait spots), and life-threatening bone marrow failure.1, 2 In addition, FA...
Fanconi anemia (FA) is a rare recessive disorder characterized clinically by congenital defects, bone marrow failure, and cancer predisposition. Abnormalities can also be present in many other organ systems and may include radial and thumb hypoplasia, abnormal skin pigmentation (caf茅-au-lait spots)...
al. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. . J. Hum. . 92, 800–806 (2013). . Sawyer, S. . et al. Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Discov. , 135–142 (2014). . Kee, Y. & D'Andrea, A...
Incidence of Fanconi Anemia in Children with Congenital Thumb Anomalies Referred for Diepoxybutane Testing Fanconi anemia (FA) is a rare genetic disorder of DNA repair that with near uniformity leads to bone marrow failure and resulting morbidity and mortality. ... ML Webb,H Rosen,A Taghinia,....
3. Incidence of Fanconi anemia in children with congenital thumb anomalies referred for diepoxybutane testing. [J] . Webb ML, Rosen H, Taghinia A, Journal of Hand Surgery. American Volume . 2011,第6期 机译:先天性拇指异常患儿的范可尼贫血发生率用于二环氧丁烷检测。 4. An integrated computat...
Epiphyseal hypertrophy of first metacarpal simulating pseudoarthrosis in Fanconi's anemia A Demirci,A Okten,HR Gumele - 《Pediatric Radiology》 被引量: 0发表: 1992年 Abductor Pollicis Longus Tendon Arthroplasty for Treatment of Arthrosis in the First Carpometacarpal Joint A retrospective study of 21...
Fanconi anemia is a rare genetic disorder affecting various body systems. Congenital abnormalities, poor hematopoiesis, a higher incidence of acute myeloid leukemia, myelodysplastic syndrome, and malignancies are the hallmarks of this autosomal recessive condition. In certain instances, the clinical signs ...
Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA protein. Hum Mutat 2000; 15 : 578-83.Balta G, de Winter JP, Kayserili H, Pronk JC, Joenje H. Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA protein. Hum ...