A Novel Phenotype Associated with CaSR ‐Related Familial Brain Calcifications
Author:
Affiliation:
1. Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana”University of Salerno Baronissi Salerno Italy
2. San Leonardo Hospital Castellammare di Stabia Naples Italy
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13009
Reference7 articles.
1. Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes
2. Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?
3. Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification
4. Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next‐Generation Sequencing Combined with TBX1 ‐MLPA
5. Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2
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1. Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications;Journal of the Endocrine Society;2022-03-18
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3. Extracellular Calcium Receptor as a Target for Glutathione and Its Derivatives;International Journal of Molecular Sciences;2022-01-10
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