TY  - GEN
AU  - Smyk,Marta
AU  - Roeder,Elizabeth
AU  - Cheung,Sau Wai
AU  - Szafranski,Przemyslaw
AU  - Stankiewicz,Paweł
TI  - A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures
SN  - 1552-4833
PY  - 2016///0419
KW  - Adolescent
KW  - Adult
KW  - Bone Diseases, Metabolic
KW  - genetics
KW  - Comparative Genomic Hybridization
KW  - Female
KW  - Fractures, Bone
KW  - Humans
KW  - Infant, Newborn
KW  - MAP Kinase Kinase 6
KW  - Pierre Robin Syndrome
KW  - Pregnancy
KW  - SOX9 Transcription Factor
KW  - Sequence Deletion
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/ajmg.a.37057
ER  -