Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings-Reference-Cited by-同舟云学术

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings

Published:2015-08 Issue:8 Volume:58 Page:381-386
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Khalifa Mohamed,Naffaa Lena

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference31 articles.

1. Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1;Al-Semari;Am. J. Med. Genet. A,2007

2. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations;Behrens;Mov. Disord.,2010

3. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy;Bernard;Am. J. Hum. Genet.,2011

4. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype;Bruggemann;Arch. Neurol.,2010

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. X-Linked Ataxias;Essentials of Cerebellum and Cerebellar Disorders;2023

2. X-Linked Ataxias;Handbook of the Cerebellum and Cerebellar Disorders;2021-12-05

3. X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity;Movement Disorders;2021-05-07

4. WDR45, one gene associated with multiple neurodevelopmental disorders;Autophagy;2021-04-12

5. X-Linked Ataxias;Handbook of the Cerebellum and Cerebellar Disorders;2021