日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

神经发育障碍中的新生 MCM6 变异:与锌结合残基相关的可识别表型

Daphne J Smits, Rachel Schot, Cristiana A Popescu, Kerith-Rae Dias, Lesley Ades, Lauren C Briere, David A Sweetser, Itaru Kushima, Branko Aleksic, Suliman Khan, Vasiliki Karageorgou, Natalia Ordonez, Frank J G T Sleutels, Daniëlle C M van der Kaay, Christine Van Mol, Hilde Van Esch, Aida M Bertoli-A

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

轻微的PUM1基因突变与成人发病型共济失调有关,而单倍体不足则会导致发育迟缓和癫痫发作。

Vincenzo A Gennarino ,Elizabeth E Palmer ,Laura M McDonell ,Li Wang ,Carolyn J Adamski ,Amanda Koire ,Lauren See ,Chun-An Chen ,Christian P Schaaf ,Jill A Rosenfeld ,Jessica A Panzer ,Ute Moog ,Shuang Hao ,Ann Bye ,Edwin P Kirk ,Pawel Stankiewicz ,Amy M Breman ,Arran McBride ,Tejaswi Kandula ,Holly A Dubbs ,Rebecca Macintosh ,Michael Cardamone ,Ying Zhu ,Kevin Ying ,Kerith-Rae Dias ,Megan T Cho ,Lindsay B Henderson ,Berivan Baskin ,Paula Morris ,Jiang Tao ,Mark J Cowley ,Marcel E Dinger ,Tony Roscioli ,Oana Caluseriu ,Oksana Suchowersky ,Rani K Sachdev ,Olivier Lichtarge ,Jianrong Tang ,Kym M Boycott ,J Lloyd Holder Jr ,Huda Y Zoghbi