Literature DB >> 31859446

PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.

Julie Voet1, Berten Ceulemans2,3, Frank Kooy4,5, Marije E C Meuwissen4,5.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2019        PMID： 31859446     DOI： 10.1002/ajmg.a.61463

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  1 in total

1.  A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review.

Authors:  Yuanzhen Ye; Zhanqi Hu; Jiahui Mai; Li Chen; Dezhi Cao; Jianxiang Liao; Jing Duan
Journal:  Front Pediatr       Date:  2022-03-21       Impact factor: 3.418
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.