Journal article

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Carolyn J Ellaway, Gladys Ho, Elisa Bettella, Alisa Knapman, Felicity Collins, Anna Hackett, Fiona McKenzie, Artur Darmanian, Gregory B Peters, Kerry Fagan, John Christodoulou

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2013

DOI: 10.1038/ejhg.2012.208

Citation metrics

27Web of Science
27Scopus

Keywords

Biochemistry & Molecular Biology
Male
Foxg1
Chromosomes, Human, Pair 14
Gene Expression Regulation
Chromosome Deletion
Rett Syndrome
Severe Mental-Retardation
Prkd1
Protein Kinase C
Forkhead Transcription Factors
Microarray Analysis
Comparative Genomic Hybridization
Deletion
Gene Expression Profiling
Science & Technology
Chromosome 14
Mecp2
Brain Factor-I
Impairment
Duplications
Patient
Female
Mutations
Features
Epilepsy
Genetics & Heredity
Dna Mutational Analysis
Phenotype
Child
Array-Based Comparative Genomic Hybridisation
Nerve Tissue Proteins
Humans
Life Sciences & Biomedicine
14q Deletion
Cytogenetic Analysis
Fatal Outcome