Bizaoui, Varoona; Huber, Céline; Kohaut, Eva; Roume, Joelle; Bonnière, Maryse; Attié-Bitach, Tania; Cormier-Daire, Valérie
American journal of medical genetics. Part A,
April 2019, Letnik:
179, Številka:
4
Journal Article
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.
