一种新的 WDR73 基因复合杂合子基因型与精神运动发育迟缓综合征有关，但不伴有小脑萎缩和其他中枢神经系统结构异常。

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-11-12 DOI:10.1111/cge.14645

Enrique Nogueira, Beatriz Del Olmo, Lara Babín, Génesis Vizuete, Concepción Lobo, Cecilia González

引用次数: 0

摘要

WDR73基因的一种新型复合杂合基因型与精神运动发育迟缓综合征有关，但不伴有小脑萎缩和其他中枢神经系统结构异常。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities.

A novel compound heterozygous genotype of the WDR73 gene associated with a psychomotor retardation syndrome without cerebellar atrophy and other CNS structural abnormalities.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease