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Cranioectodermal dysplasia 4

Cranioectodermal dysplasia 4 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 WDR19 gene.

Systematic

Cranioectodermal dysplasia
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 3
Cranioectodermal dysplasia 4
WDR19

References:

1.

Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

external link
2.

Arts HH et al. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

external link
3.

OMIM.ORG article

Omim 614378 external link
Update: Aug. 14, 2020
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