Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
CAKUT1 is the acronym for congenital anomalies of kidney and urinary tract 1 an autosomal dominant disorder caused by mutations of the DSTYK gene.
| 1. |
Sanna-Cherchi S et al. (2013) Mutations in DSTYK and Dominant Urinary Tract Malformations. 
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| 2. |
None (1977) Heterogeneity of bilateral renal agenesis.
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| 3. |
McGillivray BC et al. (1990) Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia.
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| 4. |
McPherson E et al. (1987) Dominantly inherited renal adysplasia.
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| 5. |
Buchta RM et al. (1973) Familial bilateral renal agenesis and hereditary renal adysplasia.
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| 6. |
Hakim RM et al. (1984) Hypertension and proteinuria: long-term sequelae of uninephrectomy in humans.
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| 7. |
Kiprov DD et al. (1982) Focal and segmental glomerulosclerosis and porteinuria associated with unilateral renal agenesis.
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| 8. |
Doray B et al. (1999) Hereditary renal adysplasia in a three generations family.
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| 9. |
Li Volti S et al. () Non-allelic heterogeneity in familial unilateral renal adysplasia.
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| 10. |
GORVOY JD et al. (1962) Unilateral renal agenesis in two siblings. Case report.
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| 11. |
Sanna-Cherchi S et al. (2007) Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.
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| 12. |
None (1943) Two Cases of Congenital Absence of One Kidney in Same Family.
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| 13. |
Renkema KY et al. (2011) Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).
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| 14. |
OMIM.ORG article Omim 610805
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