Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Schaefer E, Zaloszyc A, Lauer J, Durand M, Stutzmann F, Perdomo-Trujillo Y, Redin C, Bennouna Greene V, Toutain A, Perrin L, Gérard M, Caillard S, Bei X, Lewis RA, Christmann D, Letsch J, Kribs M, Mutter C, Muller J, Stoetzel C, Fischbach M, Marion V, Katsanis N, Dollfus H.
Schaefer E, et al. Among authors: christmann d.
Mol Syndromol. 2011 Sep;1(6):273-281. doi: 10.1159/000331268. Epub 2011 Sep 14.
Mol Syndromol. 2011.
PMID: 22190896
Free PMC article.