Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl-Reference-Cited by-同舟云学术

Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl

Published:2021-04 Issue: Volume: Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Sun Hao¹,Cao Zhijian¹,Gao Ruixi¹,Li Yulei¹,Chen Rui¹,Du Shiyue¹,Ma Tingbin¹,Wang Junhan²,Xu Xuan³,Liu Jing Yu³^ORCID

Affiliation:

1. College of Life Science and Technology Huazhong University of Science and Technology (HUST) Wuhan China

2. Department of Clinical Laboratory Hospital of HUST Wuhan China

3. Institute of Neuroscience State Key Laboratory of Neuroscience Center for Excellence in Brain Science and Intelligence Technology Chinese Academy of Sciences Shanghai China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1670

Reference18 articles.

1. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

2. Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients

3. Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China

4. Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

5. Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2

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1. Case report: Primary familial brain calcification associated with a rare PDGFRB variant, coexisting with nontraumatic osteonecrosis of the femoral head;Frontiers in Neuroscience;2024-05-27

2. Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications;Nature Communications;2024-03-13

3. New Evidence Suggests a Much Complex Classification for the Genetic Pattern of Inheritance in Primary Brain Calcification;Journal of Molecular Neuroscience;2023-07-07

4. The Genetics of Primary Familial Brain Calcification: A Literature Review;International Journal of Molecular Sciences;2023-06-29

5. Brain Calcifications: Genetic, Molecular, and Clinical Aspects;International Journal of Molecular Sciences;2023-05-19