CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum

被引：0
|
作者：
Vivaldi, Ilaria [1 ,2 ]
Imperi, Marco [3 ]
Tedesco, Maria Giovanna [3 ,4 ]
Vinciarelli, Elisa [3 ]
Chiarotto, Eleonora [5 ]
Colavito, Davide [5 ]
Cecconi, Michela [6 ]
Cantisani, Teresa Anna [6 ]
Prontera, Paolo [3 ]
机构：
[1] Univ Hosp S Anna Ferrara, Dept Med Sci, Unit Med Genet, Ferrara, Italy
[2] Univ Hosp S Anna Ferrara, Dept Mother & Child, Ferrara, Italy
[3] Osped S Maria Misericordia, Dept Maternal Infantile, Unit Med Genet, Perugia, Italy
[4] Mauro Baschirotto Inst Rare Dis, Unit Med Genet, BIRD Fdn, Vicenza, Italy
[5] Res & Innovat SRL R&I Genet, Padua, Italy
[6] Osped S Maria Misericordia, Unit Neurophysiopathol, Perugia, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年
关键词：
CASPASE-2;
D O I：
10.1038/s41431-024-01741-5
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页数：3
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