Hancarova, Miroslava

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome. [electronic resource] - American journal of medical genetics. Part A Apr 2013 - 865-70 p. digital

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

1552-4833

10.1002/ajmg.a.35783 doi


Abnormalities, Multiple--diagnosis
Carrier Proteins--genetics
Child
Chromosome Deletion
Chromosomes, Human, Pair 2
Facies
Female
Genetic Association Studies
Humans
Nuclear Proteins--genetics
Polymorphism, Single Nucleotide
Proto-Oncogene Proteins c-rel--genetics
Repressor Proteins
Syndrome