De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
Maria João Nabais Sá,Hanka Venselaar,Laurens Wiel,Aurélien Trimouille,Eulalie Lasseaux,Sophie Naudion,Didier Lacombe,Amélie Piton,Catherine Vincent‐Delorme,Christiane Zweier,André Reis,Regina Trollmann,Anna Ruiz,Elisabeth Gabau,Annalisa Vetro,Renzo Guerrini,Somayeh Bakhtiari,Michael C. Kruer,David J. Amor,Monica S. Cooper
出处
期刊：Genetics in Medicine [Springer Nature] 日期：2019-11-27卷期号：22 (4): 797-802被引量：31
PDF的下载单位、IP信息已删除
(2025-6-4)
BowieHuang
Twonej
无极微光
Criminology34
HOAN
专注的问寒
pluto
风清扬
核桃
wanci
小青椒
滕祥
Ky_Mac
蓝天
尉迟希望
spc68
蜀安
zhonglv7
heisebeileimao
tuanheqi
Singularity
ppg123
Mic
sswbzh
皖公网安备34019202002308
