Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Cranioectodermal dysplasia 3 is an autosomal recessive disorder with congenital skeletal malformations and ectodermal defects. Ocular abnormalities include retinitis pigmentosa. The renal phenotype is a nephronophthisis. The disease is caused by mutations of the IFT43 gene.
Cranioectodermal dysplasia
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Cranioectodermal dysplasia 1
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Cranioectodermal dysplasia 2
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Cranioectodermal dysplasia 3
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IFT43
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Cranioectodermal dysplasia 4
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| 1. |
Walczak-Sztulpa J et al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 
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| 2. |
Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
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| 3. |
Arts HH et al. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
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| 4. |
OMIM.ORG article Omim 614099
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Orphanet article Orphanet ID 79373
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