Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Torniero, Claudia

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. [electronic resource] - European journal of human genetics : EJHG Aug 2008 - 880-7 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1018-4813

10.1038/ejhg.2008.42 doi


Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 7--genetics
Facial Bones--abnormalities
Female
Gene Duplication
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability--genetics
Karyotyping
Language Development Disorders--genetics
Male
Nucleic Acid Hybridization
Oligonucleotide Array Sequence Analysis
Phenotype
Williams Syndrome--diagnosis