A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China.
Frontiers In Physiology
Zhao, Bei B; Tang, Yisi Y; Chen, Wenjing W; Wan, Huiying H; Yang, Jiyun J; Chen, Xuejun X
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
G3 (Bethesda, Md.)
Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS
Publication Date: 2015-09-16
Variant appearance in text: LSS: R177Q; rs142081800