Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Autosomal recessive form of Kenny-Caffey syndrome is caused by mutations of the TBCE gene. Clinical characteristics include hypoparathyroidism, hypocalcemia, and seizures. Radiological finding are cortical thickening and medullary stenosis.
Hypoparathyroidism
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AP2S1
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CASR
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GCM2
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GNA11
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Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
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Hypoparathyroidism-retardation-dysmorphism syndrome
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Kenny-Caffey syndrome
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TBCE
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PTH
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| 1. |
Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 
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| 2. |
Franceschini P et al. (1992) Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
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| 3. |
Bergada I et al. (1988) Kenny syndrome: description of additional abnormalities and molecular studies.
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| 4. |
Sarría A et al. (1980) [Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)].
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| 5. |
Tahseen K et al. (1997) Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed.
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| 6. |
Sabry MA et al. (1998) Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
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| 7. |
Diaz GA et al. (1998) The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
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| 8. |
OMIM.ORG article Omim 244460
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| 9. |
Orphanet article Orphanet ID 2333
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| 10. |
Wikipedia article Wikipedia EN (Kenny-Caffey_syndrome)
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