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Cranioectodermal dysplasia 2

Cranioectodermal dysplasia 2 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 WDR35 gene.

Systematic

Cranioectodermal dysplasia
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 2
WDR35
Cranioectodermal dysplasia 3
Cranioectodermal dysplasia 4

References:

1.

Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

external link
2.

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

external link
3.

OMIM.ORG article

Omim 613610 external link
Update: Aug. 14, 2020
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