Beschreibung:
Congenital disorder affecting all bone marrow elements, resulting in ; ; and , and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous is a feature of this disease along with predisposition to . There are at least 7 complementation groups in Fanconi anemia: , FANCB, , FANCD1, FANCD2, , , FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Synonym(s):
Anämie, Fanconi- /