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Severe clinical phenotype caused by the COL4A5 compound heterozygous variation in a female patient with X-linked dominant inheritance Alport syndrome： a case report and literature review

Linchuang shenzangbing zazhi
Zhang Hong-wen
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Hereditary Nephritis

New England Journal of Medicine, 1959
Ralph Goldman, George C. Haberfelde
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Hereditary nephritis and pregnancy

American Journal of Obstetrics and Gynecology, 1969
A 25-year-old woman is presented with congenital ocular defects, perceptive hearing loss since aged 8, and evidence of chronic renal disease since aged 19. During her second pregnancy she developed the nephrotic syndrome which spontaneously subsided post partum, despite persistent evidence of reduced renal function and proteinuria. A percutaneous renal
G N, Gill, J P, Hayslett
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Chronic hereditary nephritis

Human Pathology, 1979
Gholam H. Farboody, Rafael Valenzuela, Lawrence J. McCormack, Ronald Kallen, Dallas G. Osborne   +4 more
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Hereditary macrothrombocytopathia, nephritis and deafness

The American Journal of Medicine, 1972
Abstract Two unrelated families were studied in which two members of each have a syndrome of macrothrombocytopathia, nephritis and deafness. A third member of one family, a young child, has the platelet disorder and a mild hearing loss. The mode of inheritance of the syndrome appears to be dominant.
C J, Epstein, M A, Sahud, C F, Piel, J R, Goodman, M R, Bernfield, J H, Kushner, A R, Ablin   +6 more
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Hereditary nephritis and the heart

International Urology and Nephrology, 1977
Eleven cases of hereditary nephritis were studied for cardiac abnormalities by means of ECG and BCG. With the exception of two cases no significant abnormalities were demonstrable, which indicates that this genetically transmitted process generally leaves the heart unaffected.
L, Gofman, J, Tarján
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Blood coagulation and hereditary nephritis

International Urology and Nephrology, 1979
Nineteen patients with hereditary nephritis - members of six families - were studied for haemostasis on 11 occasions by the use of four capillary tests, 14 different blood coagulation tests and two different platelet function tests. Systemic capillaropathy was demonstrable in 8 out of 15 cases of the non-uraemic, and in all the 5 cases of the uraemic ...
G, Boros, L, Gofman
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