Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Issa, Lina ^a   Mueller, Katrin ^b   Seufert, Katja ^b   Kraemer, Nadine ^a   Rosenkotter, Henning ^c   Ninnemann, Olaf ^a   Buob, Michael ^c   Kaindl, Angela M ^a   Morris Rosendahl, Deborah J ^b,d  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c Klinikum   (Germany)

^d NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

Author keywords

CDK5RAP2 mutation; CDK5RAP2 protein; Cell division; Microcephaly

Indexed keywords

CYCLIN DEPENDENT KINASE 5; CYCLIN DEPENDENT KINASE 5 REGULATORY SUBUNIT ASSOCIATED PROTEIN 2; GAMMA TUBULIN; RISPERIDONE; UNCLASSIFIED DRUG;

AGGRESSION; ANGER; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR DISORDER; CASE REPORT; CELL IMMORTALIZATION; CELL TRANSFORMATION; CENTROSOME; CHILD; CLINICAL FEATURE; COGNITIVE DEVELOPMENT; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; CYTOPATHOLOGY; EPSTEIN BARR VIRUS; EXON; FACE DYSMORPHIA; FAMILY STUDY; GENE LOCUS; GENE SEGREGATION; GENETIC CODE; GENETIC LINKAGE; GOLGI COMPLEX; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERACTIVITY; HYPERPIGMENTATION; INFANT; INTELLECTUAL IMPAIRMENT; INTERPHASE; INTRON; ITALY; LOW SET EAR; LYMPHOCYTE; MALE; MENTAL HOSPITAL; MICROCEPHALY; MICROSATELLITE MARKER; MISSENSE MUTATION; MITOSIS; MITOSIS SPINDLE; MOTOR DYSFUNCTION; NEUROIMAGING; NEWBORN; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY; PROMETAPHASE; PROPHASE; PROTEIN LOCALIZATION; RAGE; RNA SPLICING; SCHOOL CHILD; SOCIAL DISABILITY; SPEECH DISORDER; TELOPHASE; TIC;

BLOTTING, WESTERN; CELL LINE, TRANSFORMED; EXONS; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HOMOZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 84876121903     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-59     Document Type: Article

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