Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly

Neurogenetics

Volumn 13, Issue 3, 2012, Pages 189-194

  Guven, Ayse ^a   Gunduz, Aysegul ^b   Bozoglu, Tarik M ^a   Yalcinkaya, Cengiz ^b   Tolun, Aslihan ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

MHAC; Microhydranencephaly; Microlissencephaly; NDE1

Indexed keywords

MESSENGER RNA; NUCLEAR DISTRIBUTION GENE E HOMOLOG 1; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOMUTILATION; BRAIN MALFORMATION; BRAIN STEM; CASE REPORT; CEREBELLUM; CEREBELLUM VERMIS; CORPUS CALLOSUM; EXON; FEMALE; FRONTAL LOBE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; JOINT CONTRACTURE; MICROHYDRANENCEPHALY; MICROLYSSENCEPHALY; MUSCLE ATROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; QUADRIPLEGIA;

ADOLESCENT; ADULT; ALLELES; BRAIN; EXONS; FACIES; FEMALE; GENE DELETION; HOMOZYGOTE; HUMANS; HYDRANENCEPHALY; MAGNETIC RESONANCE IMAGING; MICROCEPHALY; MICROTUBULE-ASSOCIATED PROTEINS; MODELS, GENETIC; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84865017141     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0326-9     Document Type: Article

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