Developmental perspectives on copy number abnormalities of the 22q11.2 region

Tan TY, Gordon CT, Amor DJ, Farlie PG. Developmental perspectives on copy number abnormalities of the 22q11.2 region. The 22q11.2 chromosomal landscape predisposes to genomic rearrangements that are associated with a variety of clinical phenotypes. The most well known of these include the 22q11.2 de...

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Veröffentlicht in:	Clinical genetics 2010-09, Vol.78 (3), p.201-218
Hauptverfasser:	Tan, TY, Gordon, CT, Amor, DJ, Farlie, PG
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Animals Biological and medical sciences chromosomal Chromosome Aberrations Chromosomes Chromosomes, Human, Pair 22 - genetics copy number copy number variation Craniofacial Abnormalities Developmental biology Fundamental and applied biological sciences. Psychology Gene Expression Regulation, Developmental General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Genomics Genotype & phenotype Humans Medical genetics Medical sciences microarray microdeletion microduplication Molecular and cellular biology Mutation Phenotypic variations Syndrome T-Box Domain Proteins - genetics
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