Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Fanconi renotubular syndrome 1

The molecular genetic alteration causing Fanconi syndrome type 1 is not yet found.

Systematic

Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 3

References:

1.

Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.

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2.

Lichter-Konecki U et al. (2001) Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.

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3.

DENT CE et al. (1956) Hereditary forms of rickets and osteomalacia.

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4.

ENGLE RL et al. (1957) The adult Fanconi syndrome. II. Review of eighteen cases.

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5.

BEN-ISHAY D et al. (1961) Fanconi syndrome with hypouricemia in an adult: family study.

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6.

LUDER J et al. (1955) A familial tubular absorption defect of glucose and amino acids.

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7.

Sheldon W et al. (1961) A Familial Tubular Absorption Defect of Glucose and Amino Acids.

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8.

DENT CE et al. (1951) The genetics of cystinuria.

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9.

Friedman AL et al. (1978) Autosomal dominant Fanconi syndrome with early renal failure.

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10.

Wen SF et al. (1989) Two case studies from a family with primary Fanconi syndrome.

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11.

Bovée KC et al. (1978) Spontaneous Fanconi syndrome in the dog.

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12.

Brenton DP et al. (1981) The adult presenting idiopathic Fanconi syndrome.

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13.

Patrick A et al. (1981) A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life.

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14.

Smith R et al. (1976) Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus.

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15.

OMIM.ORG article

Omim 134600 external link
Update: Aug. 14, 2020
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