Holoprosencephaly and ZIC2 microdeletions: Novel clinical and epidemiological specificities delineated

Clinical Genetics

Volumn 81, Issue 6, 2012, Pages 584-589

  Chabchoub, E ^a   Willekens, D ^a   Vermeesch, J R ^a   Fryns, J P ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

ACGH; Deafness; Del(13)(q32); Holoprosencephaly; ZIC2; ZIC5

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 13Q; COMPARATIVE GENOMIC HYBRIDIZATION; FACE DYSMORPHIA; GENE; GENE DELETION; GENE MICRODELETION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HOLOPROSENCEPHALY; HUMAN; MALE; MEDICAL LITERATURE; MUTATIONAL ANALYSIS; NEURAL TUBE DEFECT; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRIORITY JOURNAL; ZIC2 GENE; ZIC5 GENE;

ADOLESCENT; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; GENETIC HETEROGENEITY; HOLOPROSENCEPHALY; HUMANS; MALE; MUTATION; NEURAL TUBE DEFECTS; NUCLEAR PROTEINS; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 84860580639     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01684.x     Document Type: Article

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