Ehmke, Nadja <br/><br/>
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.  [electronic resource] 

 -  American journal of human genetics  Nov 2017 
 - 833-843 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2017.09.016  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adenosine Triphosphate--genetics<br/>Adolescent<br/>Antiporters--genetics<br/>Calcium-Binding Proteins--genetics<br/>Child<br/>Child, Preschool<br/>Craniofacial Abnormalities--genetics<br/>Craniosynostoses--genetics<br/>Cutis Laxa--genetics<br/>DNA, Mitochondrial--genetics<br/>Ductus Arteriosus, Patent--genetics<br/>Exome--genetics<br/>Female<br/>Fetal Growth Retardation--genetics<br/>Fibroblasts--pathology<br/>Growth Disorders<br/>Humans<br/>Hydrogen Peroxide--pharmacology<br/>Hypertrichosis--genetics<br/>Infant<br/>Membrane Potential, Mitochondrial--drug effects<br/>Mitochondria--drug effects<br/>Mitochondrial Proteins--genetics<br/>Mutation--genetics<br/>Oxidative Stress--genetics<br/>Progeria--genetics