De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
新发和遗传性TCF20致病变异与智力障碍、面部畸形、肌张力低下和神经系统损伤相关，其症状与史密斯-马吉尼斯综合征相似。
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-019-0623-0
Vetrini, Francesco; McKee, Shane; Rosenfeld, Jill A; Suri, Mohnish; Lewis, Andrea M; Nugent, Kimberly Margaret; Roeder, Elizabeth; Littlejohn, Rebecca O; Holder, Sue; Zhu, Wenmiao; Alaimo, Joseph T; Graham, Brett; Harris, Jill M; Gibson, James B; Pastore, Matthew; McBride, Kim L; Komara, Makanko; Al-Gazali, Lihadh; Al Shamsi, Aisha; Fanning, Elizabeth A; Wierenga, Klaas J; Scott, Daryl A; Ben-Neriah, Ziva; Meiner, Vardiella; Cassuto, Hanoch; Elpeleg, Orly; Holder, J Lloyd Jr; Burrage, Lindsay C; Seaver, Laurie H; Van Maldergem, Lionel; Mahida, Sonal; Soul, Janet S; Marlatt, Margaret; Matyakhina, Ludmila; Vogt, Julie; Gold, June-Anne; Park, Soo-Mi; Varghese, Vinod; Lampe, Anne K; Kumar, Ajith; Lees, Melissa; Holder-Espinasse, Muriel; McConnell, Vivienne; Bernhard, Birgitta; Blair, Ed; Harrison, Victoria; Muzny, Donna M; Gibbs, Richard A; Elsea, Sarah H; Posey, Jennifer E; Bi, Weimin; Lalani, Seema; Xia, Fan; Yang, Yaping; Eng, Christine M; Lupski, James R; Liu, Pengfei
