Short-rib thoracic dysplasia with or without polydactyly 13

Short-rib thoracic dysplasia with or without polydactyly type 13 is an autosomal recessive disorder caused by mutations in the CEP120 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
		CEP120
	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
	Short-rib thoracic dysplasia with or without polydactyly 19

References:

1.	Roosing S et al. (2016) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

2.	Shaheen R et al. (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

3.	OMIM.ORG article Omim 616300

Update: June 23, 2025

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