Vuillaume, Marie-Laure

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication. [electronic resource] - Molecular genetics and metabolism - 90-7 p. digital

Publication Type: Case Reports; Journal Article

1096-7206

10.1016/j.ymgme.2013.07.013 doi


Adolescent
Cell Adhesion Molecules, Neuronal--genetics
Chromosome Deletion
Chromosomes, Human, Pair 3--genetics
Comparative Genomic Hybridization
Developmental Disabilities--diagnosis
Female
GAP-43 Protein--genetics
GPI-Linked Proteins--genetics
Gene Deletion
Gene Dosage
Genes, Duplicate
Humans
In Situ Hybridization, Fluorescence
Male
Nerve Tissue Proteins--genetics
Obesity--genetics
Receptors, Dopamine D3--genetics
Transcription Factors--genetics