Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Short-rib thoracic dysplasia with or without polydactyly 18

Short-rib thoracic dysplasia with or without polydactyly type 18 is an autosomal recessive disorder caused by mutations in the IFT43 gene.

Systematic

Short-rib thoracic dysplasia with or without polydactyly
Short-rib thoracic dysplasia with or without polydactyly 01
Short-rib thoracic dysplasia with or without polydactyly 02
Short-rib thoracic dysplasia with or without polydactyly 03
Short-rib thoracic dysplasia with or without polydactyly 04
Short-rib thoracic dysplasia with or without polydactyly 05
Short-rib thoracic dysplasia with or without polydactyly 06
Short-rib thoracic dysplasia with or without polydactyly 07
Short-rib thoracic dysplasia with or without polydactyly 08
Short-rib thoracic dysplasia with or without polydactyly 09
Short-rib thoracic dysplasia with or without polydactyly 10
Short-rib thoracic dysplasia with or without polydactyly 11
Short-rib thoracic dysplasia with or without polydactyly 12
Short-rib thoracic dysplasia with or without polydactyly 13
Short-rib thoracic dysplasia with or without polydactyly 14
Short-rib thoracic dysplasia with or without polydactyly 15
Short-rib thoracic dysplasia with or without polydactyly 16
Short-rib thoracic dysplasia with or without polydactyly 17
Short-rib thoracic dysplasia with or without polydactyly 18
IFT43
Short-rib thoracic dysplasia with or without polydactyly 19

References:

1.

Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

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2.

Huber C et al. (2012) Ciliary disorder of the skeleton.

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3.

Duran I et al. (2017) Mutations in IFT-A satellite core component genesandproduce short rib polydactyly syndrome with distinctive campomelia.

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4.

OMIM.ORG article

Omim 617866 [^]
Update: April 29, 2019