Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 168, Issue 7, 2015, Pages 586-594

  Nicolas, Gaël ^a,b   Charbonnier, Camille ^a,b   de Lemos, Roberta Rodrigues ^c   Richard, Anne Claire ^a   Guillin, Olivier ^a,b   Wallon, David ^a,b   Legati, Andrea ^d   Geschwind, Daniel ^d   Coppola, Giovanni ^d   Frebourg, Thierry ^a,b   Campion, Dominique ^a,b,e   de Oliveira, João Ricardo Mendes ^c   Hannequin, Didier ^a,b   Anheim, Mathieu ^d   Ayrignac, Xavier ^d   Azulay, Jean Philippe ^d   Derache, Nathalie ^d   Durif, Franck ^d   Guyant Maréchal, Lucie ^d   Hodille Renaud, Mathilde ^d   Labauge, Pierre ^d   Le Ber, Isabelle ^d   Lefaucheur, Romain ^d   Maltête, David ^d   Pariente, Jérémie ^d   Rouault, Olivier ^d   Thauvin Robinet, Christel ^d   Rudolf, Pauline ^d   Tranchant, Christine ^d   Verny, Christophe ^d   more..

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY OF ROUEN   (France)

^c FEDERAL UNIVERSITY OF PERNAMBUCO   (Brazil)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Rouvray Psychiatric Hospital   (France)

Author keywords

Fahr disease; Idiopathic basal ganglia calcification; PDGFB; PDGFRB; Primary familial brain calcification; SLC20A2

Indexed keywords

ADULT; AGE DISTRIBUTION; ARTICLE; BRAIN CALCIFICATION; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE ACTIVITY; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MIDDLE AGED; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MOTOR DYSFUNCTION; PDGFB GENE; PDGFRB GENE; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SEX DIFFERENCE; SLC20A2 GENE; BONE MINERALIZATION; CALCINOSIS; GENETIC ASSOCIATION STUDY; GENETICS; METABOLIC ENCEPHALOPATHY; METABOLISM; PATHOLOGY;

PDGFRB PROTEIN, HUMAN; PLATELET DERIVED GROWTH FACTOR B; PLATELET DERIVED GROWTH FACTOR BETA RECEPTOR; SLC20A2 PROTEIN, HUMAN; SODIUM PHOSPHATE COTRANSPORTER 3;

ADULT; BRAIN DISEASES, METABOLIC, INBORN; CALCIFICATION, PHYSIOLOGIC; CALCINOSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; PROTO-ONCOGENE PROTEINS C-SIS; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR BETA; SEX FACTORS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE III;

EID: 84941600804     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32336     Document Type: Article

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