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

Am J Med Genet A. 2019 Apr;179(4):639-644. doi:10.1002/ajmg.a.61050. Epub 2019 Feb 14

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摘要

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.

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

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