Jurkiewicz, Dorota

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency. [electronic resource] - Pediatrics international : official journal of the Japan Pediatric Society Jun 2015 - 486-91 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1442-200X

10.1111/ped.12611 doi


Abnormalities, Multiple
Adult
Beckwith-Wiedemann Syndrome--diagnosis
Chromosome Deletion
Chromosome Disorders--diagnosis
Chromosomes, Human, Pair 11--genetics
Chromosomes, Human, Pair 13--genetics
Factor VII Deficiency--diagnosis
Female
Humans
Infant
Multiplex Polymerase Chain Reaction