Short Rib–polydactyly Syndrome

Watchlist

(log in to enable)

Retrieved

2021-01-18

Source

Wikipedia

Trials

—

Genes

NEK1, WDR35, IFT52, KIAA0586, WDR34, DYNC2H1, DYNC2LI1, WDR60, TCTEX1D2, IFT140, IFT172, TTC21B, CEP120, CILK1, FLVCR1, INTU, IFT43, IFT80, TCTN3, PPP1R2C, UCN2

Drugs

—

Interested in hearing about new therapies?

Short rib–polydactyly syndrome is a family of four closely related dysplasias:

I – "Saldino-Noonan type"
II – "Majewski type"
III – "Verma-Naumoff type" (associated with DYNC2H1)
IV – "Beemer-Langer type"