Varvagiannis, Konstantinos

Pure de novo partial trisomy 6p in a girl with craniosynostosis. [electronic resource] - American journal of medical genetics. Part A Feb 2013 - 343-51 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.35727 doi


Abnormalities, Multiple--diagnosis
Child
Chromosomes, Human, Pair 6
Core Binding Factor Alpha 1 Subunit--genetics
Craniosynostoses--diagnostic imaging
Developmental Disabilities--diagnosis
Female
Gene Duplication
Genetic Association Studies
Humans
Infant
Infant, Newborn
Radiography
Syndrome
Trisomy