Lefebvre, Mathilde <br/><br/>
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.  [electronic resource] 

 -  Journal of medical genetics  Jun 2018 
 - 422-429 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2017-104939  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Basic Helix-Loop-Helix Transcription Factors--genetics<br/>Bone Diseases, Developmental--genetics<br/>Child<br/>Child, Preschool<br/>Female<br/>Glycosyltransferases--genetics<br/>Humans<br/>Infant<br/>Intracellular Signaling Peptides and Proteins--genetics<br/>Male<br/>Membrane Proteins--genetics<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Spine--metabolism<br/>T-Box Domain Proteins--genetics<br/>Exome Sequencing