Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

American Journal of Medical Genetics, Part A

Volumn 164, Issue 9, 2014, Pages 2161-2171

  Poulton, Cathryn J ^a   Schot, Rachel ^a   Seufert, Katja ^b,h   Lequin, Maarten H ^a   Accogli, Andrea ^c   Annunzio, Giuseppe D' ^c   Villard, Laurent ^d   Philip, Nicole ^d   de Coo, René ^a   Catsman Berrevoets, Coriene ^a   Grasshoff, Ute ^e   Kattentidt Mouravieva, Anja ^a   Calf, Hans ^f   de Vreugt Gronloh, Erika ^f   van Unen, Leontine ^a   Verheijen, Frans W ^a   Galjart, Niels ^a   Morris Rosendahl, Deborah J ^b,g   Mancini, Grazia M S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF FREIBURG   (Germany)

^c G GASLINI INSTITUTE   (Italy)

^d AIX MARSEILLE UNIVERSITY   (France)

^e UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^f ASVZ Zuid West Rotterdam   (Netherlands)

^g NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^h UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Lissencephaly; Microcephaly; WDR62

Indexed keywords

PHENYLALANINE; TUBULIN; VALINE; MICROTUBULE ASSOCIATED PROTEIN; NERVE PROTEIN; TBCD PROTEIN, HUMAN; WDR62 PROTEIN, HUMAN;

ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; GENE; GENE LOCUS; HUMAN; IMMUNOHISTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; MACROGYRIA; MALE; MICROCEPHALY; MICROGYRIA; MICROLISSENCEPHALY; MICROTUBULE ASSEMBLY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPEECH DELAY; TBCD GENE; WDR62 GENE; BRAIN; CASE REPORT; GENETIC PREDISPOSITION; GENETICS; INFANT; METABOLISM; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PREGNANCY;

BASE SEQUENCE; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PREGNANCY; TUBULIN;

EID: 84905922613     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36611     Document Type: Article

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