Homozygous DMRT2 variant associates with severe rib malformations in a newborn.

Bouman, Arjan

Homozygous DMRT2 variant associates with severe rib malformations in a newborn. [electronic resource] - American journal of medical genetics. Part A 05 2018 - 1216-1221 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.38668 doi


Abnormalities, Multiple--diagnosis
Alleles
DNA-Binding Proteins--genetics
Fatal Outcome
Genetic Association Studies
Genetic Predisposition to Disease
Hernia, Diaphragmatic--diagnosis
Heterozygote
Homozygote
Humans
Infant, Newborn
Male
Mutation
Phenotype
Radiography
Ribs--abnormalities
Spine--abnormalities
Tomography, Spiral Computed
Transcription Factors--genetics
Exome Sequencing