TY  - GEN
AU  - Varvagiannis,Konstantinos
AU  - Stefanidou,Amalia
AU  - Gyftodimou,Yolanda
AU  - Lord,Helen
AU  - Williams,Louise
AU  - Sarri,Catherine
AU  - Pandelia,Efi
AU  - Bazopoulou-Kyrkanidou,Euterpe
AU  - Noakes,Charlotte
AU  - Lester,Tracy
AU  - Wilkie,Andrew O M
AU  - Petersen,Michael B
TI  - Pure de novo partial trisomy 6p in a girl with craniosynostosis
SN  - 1552-4833
PY  - 2013///0701
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Child
KW  - Chromosomes, Human, Pair 6
KW  - Core Binding Factor Alpha 1 Subunit
KW  - genetics
KW  - Craniosynostoses
KW  - diagnostic imaging
KW  - Developmental Disabilities
KW  - Female
KW  - Gene Duplication
KW  - Genetic Association Studies
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Radiography
KW  - Syndrome
KW  - Trisomy
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.35727
ER  -