TY  - GEN
AU  - Bouman,Arjan
AU  - Waisfisz,Quinten
AU  - Admiraal,Jop
AU  - van de Loo,Moniek
AU  - van Rijn,Rick R
AU  - Micha,Dimitra
AU  - Oostra,Roelof-Jan
AU  - Mathijssen,Inge B
TI  - Homozygous DMRT2 variant associates with severe rib malformations in a newborn
SN  - 1552-4833
PY  - 2019///0520
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Alleles
KW  - DNA-Binding Proteins
KW  - genetics
KW  - Fatal Outcome
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Hernia, Diaphragmatic
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Radiography
KW  - Ribs
KW  - abnormalities
KW  - Spine
KW  - Tomography, Spiral Computed
KW  - Transcription Factors
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.38668
ER  -