TY  - GEN
AU  - Winberg,Johanna
AU  - Lagerstedt Robinson,Kristina
AU  - Naess,Karin
AU  - Lesko,Nicole
AU  - Wibom,Rolf
AU  - Liedén,Agne
AU  - Anderlid,Britt-Marie
AU  - Graff,Caroline
AU  - Nordenskjöld,Agneta
AU  - Nordgren,Ann
AU  - Gustavsson,Peter
TI  - Partial tetrasomy 14 associated with multiple malformations
SN  - 1552-4833
PY  - 2016///0415
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Child
KW  - Chromosomes, Human, Pair 14
KW  - Cleft Lip
KW  - Coloboma
KW  - Comparative Genomic Hybridization
KW  - Craniosynostoses
KW  - Electron Transport Complex I
KW  - deficiency
KW  - Female
KW  - Gastrointestinal Diseases
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Intellectual Disability
KW  - Karyotyping
KW  - Microsatellite Repeats
KW  - Mitochondrial Diseases
KW  - metabolism
KW  - Models, Genetic
KW  - Muscle, Skeletal
KW  - Seizures
KW  - Sweden
KW  - Tetrasomy
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.35887
ER  -