TY  - GEN
AU  - Kemeny,Stéphan
AU  - Pebrel-Richard,Céline
AU  - Eymard-Pierre,Eléonore
AU  - Gay-Bellile,Mathilde
AU  - Gouas,Laetitia
AU  - Goumy,Carole
AU  - Tchirkov,Andreï
AU  - Francannet,Christine
AU  - Vago,Philippe
TI  - Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay
SN  - 1878-0849
PY  - 2015///0612
KW  - Adolescent
KW  - Chromosomes, Human, Pair 17
KW  - Collagen Type I
KW  - genetics
KW  - Collagen Type I, alpha 1 Chain
KW  - Comparative Genomic Hybridization
KW  - Developmental Disabilities
KW  - Extracellular Matrix Proteins
KW  - Female
KW  - Gene Duplication
KW  - Humans
KW  - Intellectual Disability
KW  - Microcephaly
KW  - Musculoskeletal Abnormalities
KW  - Protein Phosphatase 1
KW  - Sarcoglycans
KW  - Scoliosis
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejmg.2014.07.003
ER  -