Primary brain calcification: an international study reporting novel variants and associated phenotypes

Keyphrases

• Platelet-derived Growth factor-BB (PDGF-BB) 100%
• Novel Variants 100%
• Associated Phenotypes 100%
• Variant Phenotypes 100%
• Primary Familial Brain Calcification 100%
• Proband 50%
• Likely Pathogenic Variant 50%
• SLC20A2 50%
• XPR1 50%
• Cognitive Impairment 25%
• Age of Onset 25%
• Diagnostic Criteria 25%
• Coding Region 25%
• Motor Symptoms 25%
• Cognitive Symptoms 25%
• Causative Gene 25%
• Autosomal Dominant 25%
• Family History 25%
• Genetic Counseling 25%
• Sequence Variants 25%
• Cognitive-motor 25%
• Parkinsonism 25%
• Psychiatric Disturbances 25%
• Neuropsychiatric Symptoms 25%
• Cerebral Microcirculation 25%
• Recurrent Symptoms 25%
• Uncertain Significance 25%

Biochemistry, Genetics and Molecular Biology

• Proband 100%
• Platelet Derived Growth Factor B 100%
• Platelet Derived Growth Factor Receptor Beta 100%
• Coding Region 50%
• Autosomal Dominant Inheritance 50%
• Genetic Counseling 50%
• Adenosine Monophosphate 50%
• Dominant Inheritance 50%