Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Farag, Heba Gamal ^a   Froehler, Sebastian ^b   Oexle, Konrad ^c   Ravindran, Ethiraj ^a   Schindler, Detlev ^d   Staab, Timo ^d   Huebner, Angela ^e   Kraemer, Nadine ^a   Chen, Wei ^b   Kaindl, Angela M ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY OF WÜRZBURG   (Germany)

^e DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Cell division; Intellectual disability; Microcephaly; WDR62 mutation

Indexed keywords

CELL PROTEIN; UNCLASSIFIED DRUG; WD REPEAT CONTAINING PROTEIN 62;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY TYPE 2; CASE REPORT; CELL DISRUPTION; CELL IMMORTALIZATION; CELL STRUCTURE; CELLULAR DISTRIBUTION; CENTROSOME; CEREBELLUM HYPOPLASIA; CLINICAL FEATURE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; EXOME; FEMALE; FRAMESHIFT MUTATION; FRONTAL LOBE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GERMANY; HETEROZYGOSITY; HIPPOCAMPUS; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; LYMPHOCYTE; MICROCEPHALY; MISSENSE MUTATION; MITOSIS SPINDLE; NEURORADIOLOGY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN LOCALIZATION; RNA SPLICING; WDR62 GENE;

CENTROSOME; HETEROZYGOTE; HUMANS; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS; SPINDLE APPARATUS;

EID: 84887368897     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-178     Document Type: Article

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