학술논문
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Document Type
Article
Author
Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Consortium, Genomics England Research; Jacques, Thomas S; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Våtevik, Anne Katrine; Kraoua, Ichraf; Rhouma, Hanene Ben; Younes, Thouraya Ben; Miladi, Zouhour; Turki, Ilhem Ben Youssef
Source
Human Molecular Genetics; 2/15/2023, Vol. 32 Issue 4, p580-594, 15p
Subject
Language
ISSN
09646906