Add to ORKGWe report on the results obtained in 6 Fanconi's anaemia families (FA) (parents, brothers and sisters) affected by at least one of the symptoms usually observed in FA. The 6 FA families were studied from 1974 to 1990, all having located in Madrid (Spain) but with different ethnic origin: 3 families are of Spanish descent and the other 3 are gipsy families. All showed characteristics of the disease, including malformations, stunted growth, microcephaly, skin hyperpigmentation, high incidence of chromosomal breaks in lymphocyte cultures, and hematological and biochemical abnormalities: pancytopeny, increased fetal hemoglobin levels and significantly decreased superoxide dismutase (SOD) activity.Peer reviewe
Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormali...
Fanconi anemia (FA) is an inherited disease, characterized by congenital malformations, short statur...
With many genetic conditions, insights are only now beginning to be attained through molecular appro...
Fanconi anemia (FA) is a rare disease, with an estimated frequency of 1 to 5 per 1,000,000 births, w...
Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized b...
Fanconi Anemia (FA) is a rare autosomal recessive disorder affecting multiple body systems. The diag...
Fanconi anemia (FA) is a rare genetic disease caused by mutations in genes whose protein products ar...
Fanconi anaemia is a rare genetic disorder which leads to bone marrow failure and results in decreas...
Fanconi anemia (FA) is a rare human recessive syndrome featuring bone marrow failure, myelodysplasia...
Background and objective: Fanconi anemia is a rare inherited autosomal recessive disease characteriz...
Fanconi anemia (FA) is a rare autosomal recessive disease characterized by multiple congenital abnor...
Fanconi’s anemia (FA) alson called Fanconi Pancytopenia is a rare, potentially life-threatening fail...
Copyright © 2012 Laura E. Hays et al. This is an open access article distributed under the Creative ...
Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 gen...
Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposit...
Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormali...
Fanconi anemia (FA) is an inherited disease, characterized by congenital malformations, short statur...
With many genetic conditions, insights are only now beginning to be attained through molecular appro...
Fanconi anemia (FA) is a rare disease, with an estimated frequency of 1 to 5 per 1,000,000 births, w...
Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized b...
Fanconi Anemia (FA) is a rare autosomal recessive disorder affecting multiple body systems. The diag...
Fanconi anemia (FA) is a rare genetic disease caused by mutations in genes whose protein products ar...
Fanconi anaemia is a rare genetic disorder which leads to bone marrow failure and results in decreas...
Fanconi anemia (FA) is a rare human recessive syndrome featuring bone marrow failure, myelodysplasia...
Background and objective: Fanconi anemia is a rare inherited autosomal recessive disease characteriz...
Fanconi anemia (FA) is a rare autosomal recessive disease characterized by multiple congenital abnor...
Fanconi’s anemia (FA) alson called Fanconi Pancytopenia is a rare, potentially life-threatening fail...
Copyright © 2012 Laura E. Hays et al. This is an open access article distributed under the Creative ...
Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 gen...
Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposit...
Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormali...
Fanconi anemia (FA) is an inherited disease, characterized by congenital malformations, short statur...
With many genetic conditions, insights are only now beginning to be attained through molecular appro...