Report of a young patient with brain calcifications with a novel homozygous MYORG variant
Author:
Funder
FAPESP
CNPq
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference12 articles.
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3. a nuclear envelope transmembrane protein with glycosidase homology, is involved in myoblast differentiation;Datta;J. Biol. Chem.,2009
4. New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy;Ferreira;Brain,2019
5. Update and mutational analysis of SLC20A2: A major cause of primary familial brain calcification;Lemos;Hum. Mutat.,2015
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. Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review;Molecular Genetics & Genomic Medicine;2023-09-07
2. The Genetics of Primary Familial Brain Calcification: A Literature Review;International Journal of Molecular Sciences;2023-06-29
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