Mutations in IFT80 cause SRPS Type IV. Report of two families and review

We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer‐Langer syndrome (BLS) or BLS‐like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.

from Genetics via xlomafota13 on Inoreader http://bit.ly/2TNQMri
via IFTTT