McCullagh, B G

Distinctive neurological phenotype associated with partial trisomy of chromosome 16. [electronic resource] - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Jan 2013 - 105-7 p. digital

Publication Type: Case Reports; Journal Article

1532-2130

10.1016/j.ejpn.2012.06.009 doi


Abnormalities, Multiple--genetics
Blindness, Cortical--genetics
Chromosomes, Human, Pair 16
Dystonia--genetics
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Mosaicism
Neutropenia--genetics
Phenotype
Trisomy--pathology