Short rib-polydactyly syndrome
Definition:
References:
-
[1]. Amy E Merrill, et al. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009 Apr;84(4):542-9. [Content Brief]
[2]. Christian Thiel, et al. NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet. 2011 Jan 7;88(1):106-14. [Content Brief]
[3]. Ivan Duran, et al. Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. Cilia. 2017 Apr 10;6:7. [Content Brief]
[4]. Nathalie Dagoneau, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. [Content Brief]
Molarity Calculator
Dilution Calculator
