Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
KIAA0753基因突变会导致Joubert综合征，并伴有生长激素缺乏症。
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-017-1765-z
Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M; Yildirimli, Deniz; Maynard, Dawn M; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C; Huizing, Marjan; Gahl, William A; Malicdan, May Christine V; Gunay-Aygun, Meral
