TY  - GEN
AU  - Vuillaume,Marie-Laure
AU  - Delrue,Marie-Ange
AU  - Naudion,Sophie
AU  - Toutain,Jérôme
AU  - Fergelot,Patricia
AU  - Arveiler,Benoit
AU  - Lacombe,Didier
AU  - Rooryck,Caroline
TI  - Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication
SN  - 1096-7206
PY  - 2014///0317
KW  - Adolescent
KW  - Cell Adhesion Molecules, Neuronal
KW  - genetics
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 3
KW  - Comparative Genomic Hybridization
KW  - Developmental Disabilities
KW  - diagnosis
KW  - Female
KW  - GAP-43 Protein
KW  - GPI-Linked Proteins
KW  - Gene Deletion
KW  - Gene Dosage
KW  - Genes, Duplicate
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Male
KW  - Nerve Tissue Proteins
KW  - Obesity
KW  - Receptors, Dopamine D3
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ymgme.2013.07.013
ER  -