A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

Journal of Medical Genetics

Volumn 46, Issue 10, 2009, Pages 703-710

  Roos, L ^a   Jonch A E ^b   Kjaergaard, S ^b   Taudorf, K ^c   Simonsen, H ^c   Hamborg Petersen, B ^d   Brondum Nielsen K ^a   Kirchhoff, M ^b  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b Rigshospitalet   (Denmark)

^c HVIDOVRE HOSPITAL   (Denmark)

^d Soenderborg Hospital   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AGYRIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FACE DYSMORPHIA; FEMALE; GENE; GROWTH RETARDATION; HUMAN; INFANT; MALE; MICRODUPLICATION SYNDROME; MILLER DIEKER SYNDROME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; PAFAH1B1 GENE; PHENOTYPE; PRIORITY JOURNAL;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; DEVELOPMENTAL DISABILITIES; FACIAL BONES; FEMALE; GENE DUPLICATION; HUMANS; INFANT; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUSCLE HYPOTONIA; SYNDROME;

EID: 70349687256     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.065094     Document Type: Article

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