一名中国早期婴儿癫痫性脑病患者的神经元分化因子2的新致病变体

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2024-07-01 Epub Date: 2024-04-17 DOI:10.1097/MCD.0000000000000498

Jennifer Yuen Ying Poon, Myth Tsz Shun Mok, Stephanie Ka Lun Ho, Shirley Sze Wing Cheng, Ivan Fai Man Lo, Ho-Ming Luk

引用次数: 0

摘要

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy.

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.