9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition-Reference-Cited by-同舟云学术

9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition

Published:2016-01-05 Issue:4 Volume:170 Page:1095-1098
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Crone Megan¹,Thomas Mary Ann²³

Affiliation:

1. Section of Pediatrics; Department of Neurology; Cumming School of Medicine; Alberta Children's Hospital; University of Calgary; Calgary Alberta Canada

2. Department of Medical Genetics; Cumming School of Medicine; Alberta Children's Hospital; University of Calgary; Calgary Alberta Canada

3. Alberta Children's Hospital Research Institute for Child and Maternal Health; University of Calgary; Calgary Alberta Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37534/fullpdf

Reference20 articles.

1. Localization of human gene for galactose-1-phosphate-uridyltransferase;Allderdice;(Letter) Lancet,1975

2. A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis;Al-Saif;Ann Neurol,2011

3. A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum;Boukhris;Neurogenetics,2010

4. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II;Cramer;Hum Mol Genet,1999

5. Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p;Eshel;J Child Neurol,2002

Cited by 2 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. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP;The American Journal of Human Genetics;2023-11

2. Tremor is a major feature of 9p13 deletion syndrome;American Journal of Medical Genetics Part A;2020-09-08