The molecular genetic alteration causing Fanconi syndrome type 1 is not yet found.
|Fanconi renotubular syndrome|
|Autosomal dominant idiopathic Fanconi syndrome|
|Fanconi renotubular syndrome 1|
|Fanconi renotubular syndrome 2|
|Fanconi renotubular syndrome 3|
Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.
Lichter-Konecki U et al. (2001) Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.
DENT CE et al. (1956) Hereditary forms of rickets and osteomalacia.
ENGLE RL et al. (1957) The adult Fanconi syndrome. II. Review of eighteen cases.
BEN-ISHAY D et al. (1961) Fanconi syndrome with hypouricemia in an adult: family study.
LUDER J et al. (1955) A familial tubular absorption defect of glucose and amino acids.
Sheldon W et al. (1961) A Familial Tubular Absorption Defect of Glucose and Amino Acids.
DENT CE et al. (1951) The genetics of cystinuria.
Friedman AL et al. (1978) Autosomal dominant Fanconi syndrome with early renal failure.
Wen SF et al. (1989) Two case studies from a family with primary Fanconi syndrome.
Bovée KC et al. (1978) Spontaneous Fanconi syndrome in the dog.
Brenton DP et al. (1981) The adult presenting idiopathic Fanconi syndrome.
Patrick A et al. (1981) A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life.
Smith R et al. (1976) Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus.
OMIM.ORG articleOmim 134600