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.
Keywords: IFT80; Beemer-Langer syndrome; ciliopathy; short rib polydactyly syndromes.
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