Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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

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2.

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

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Update: Sept. 26, 2018