IFT27

Publications

Aldahmesh MA et al. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome. Hum mol genet. 2014; 23(12):3307-3315. PMID: 24488770. 

QuĂ©lin C et al. Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. Am J Med Genet A. 2018; 176(7): 1610-1613. PMID: 29704304.

Sanchez-Navarro I et al. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. Sci rep. 2018; 8(1): 5285. PMID: 29588463.

Schaefer E et al. Identification and characterization of known biallelic mutations in the IFT27 (BBS19) gene in a novel family with Bardet-Biedl syndrome. Front Genet.2019;10: 433219. PMID: 30761183.