Partial Deletion of LIS1: A Pitfall in Molecular Diagnosis of Miller-Dieker Syndrome

Pediatric Neurology

Volumn 36, Issue 4, 2007, Pages 258-260

  Izumi, Kosuke ^a   Kuratsuji, Gen ^a   Ikeda, Kazushige ^a   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AGYRIA; ARTICLE; CASE REPORT; CHROMOSOME 17P; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; HUMAN; INFANT; LIS1 GENE; MILLER DIEKER SYNDROME; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; DIAGNOSTIC ERRORS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MICROTUBULE-ASSOCIATED PROTEINS; NERVOUS SYSTEM MALFORMATIONS; REAGENT KITS, DIAGNOSTIC;

EID: 34247169637     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2006.11.015     Document Type: Article

References (8)

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