WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Human Mutation

Volumn 36, Issue 11, 2015, Pages 1021-1028

  Vodopiutz, Julia ^a   Seidl, Rainer ^a   Prayer, Daniela ^b   Khan, M Imran ^c   Mayr, Johannes A ^d   Streubel, Berthold ^b   Steiß, Jens Oliver ^e   Hahn, Andreas ^e   Csaicsich, Dagmar ^a   Castro, Christel ^f,g   Assoum, Mirna ^f,g   Müller, Thomas ^c   Wieczorek, Dagmar ^h   Mancini, Grazia M S ⁱ   Sadowski, Carolin E ^j,k   Lévy, Nicolas ^f,g,l   Mégarbané, André ^m,n   Godbole, Koumudi ^o   Schanze, Denny ^p   Hildebrandt, Friedhelm ^j   Delague, Valérie ^f,g   Janecke, Andreas R ^c   Zenker, Martin ^p,q   more..

^a UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d PARACELSUS MEDICAL UNIVERSITY   (Austria)

^e JUSTUS LIEBIG UNIVERSITY   (Germany)

^f INSERM   (France)

^g AIX MARSEILLE UNIVERSITY   (France)

^h UNIVERSITY OF DUISBURG ESSEN   (Germany)

ⁱ ERASMUS MEDICAL CENTER   (Netherlands)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^l TIMONE HOSPITAL   (France)

^m SAINT JOSEPH UNIVERSITY   (Lebanon)

ⁿ Institute Jérôme Lejeune   (France)

^o DEENANATH MANGESHKAR HOSPITAL   (India)

^p UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^q UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

more..

Author keywords

Basal ganglia; Cerebellar atrophy; Galloway Mowat; Intellectual disability; Optic atrophy; Retinopathy; SCAR5; WDR73

Indexed keywords

ADOLESCENT; ARTICLE; BASAL GANGLION; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CHROMOSOME 15; CHROMOSOME 15Q; CLINICAL FEATURE; CODON; COHORT ANALYSIS; CONGENITAL SKIN DISEASE; DISEASE COURSE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GERMLINE MUTATION; GLOMERULAR KIDNEY DISEASE; HOMOZYGOSITY; HUMAN; INFANT DISEASE; INTELLECTUAL IMPAIRMENT; KIDNEY DISEASE; LINKAGE ANALYSIS; MALE; MENTAL DEFICIENCY; MICROTUBULE ASSEMBLY; MISSENSE MUTATION; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC NERVE ATROPHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEGREGATION ANALYSIS; SHORT STATURE; STEREOSPECIFICITY; TRANSLATION INITIATION; VISUAL IMPAIRMENT; WDR73 GENE; ABNORMALITIES; ADULT; AMINO ACID SEQUENCE; BIOPSY; BRAIN; CHEMISTRY; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; GLOMERULONEPHRITIS; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HERNIA, HIATAL; MICROCEPHALY; MOLECULAR GENETICS; MUTATION; NEPHROSIS; PATHOLOGY; PEDIGREE; SEQUENCE ALIGNMENT; YOUNG ADULT;

PROTEIN; WDR73 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BIOPSY; BRAIN; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GLOMERULONEPHRITIS; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HERNIA, HIATAL; HUMANS; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; NEPHROSIS; NEUROIMAGING; PEDIGREE; PHENOTYPE; PROTEINS; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 84944172123     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22828     Document Type: Article

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