Das renotubuläres Fanconi-Syndrom Typ 1 ist molekulargenetisch noch nicht charakterisiert.
Fanconi-Syndrom | |||
Autosomal dominantes idiopathisches Fanconi-Syndrom | |||
Fanconi-Syndrom Typ 1 | |||
Fanconi-Syndrom Typ 2 | |||
Fanconi-Syndrom Typ 3 | |||
1. |
Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. |
2. |
Lichter-Konecki U et al. (2001) Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. |
3. |
DENT CE et al. (1956) Hereditary forms of rickets and osteomalacia. |
4. |
ENGLE RL et al. (1957) The adult Fanconi syndrome. II. Review of eighteen cases. |
5. |
BEN-ISHAY D et al. (1961) Fanconi syndrome with hypouricemia in an adult: family study. |
6. |
LUDER J et al. (1955) A familial tubular absorption defect of glucose and amino acids. |
7. |
Sheldon W et al. (1961) A Familial Tubular Absorption Defect of Glucose and Amino Acids. |
8. |
DENT CE et al. (1951) The genetics of cystinuria. |
9. |
Friedman AL et al. (1978) Autosomal dominant Fanconi syndrome with early renal failure. |
10. |
Wen SF et al. (1989) Two case studies from a family with primary Fanconi syndrome. |
11. |
Bovée KC et al. (1978) Spontaneous Fanconi syndrome in the dog. |
12. |
Brenton DP et al. (1981) The adult presenting idiopathic Fanconi syndrome. |
13. |
Patrick A et al. (1981) A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. |
14. |
Smith R et al. (1976) Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus. |
15. |
OMIM.ORG article Omim 134600 |