Courtens, Winnie <br/><br/>
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.  [electronic resource] 

 -  American journal of medical genetics. Part A  Mar 2006 
 - 611-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.31122  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Blotting, Western<br/>Child, Preschool<br/>Chromosome Aberrations<br/>Face--abnormalities<br/>Female<br/>Gene Duplication<br/>Genome, Human<br/>Humans<br/>Hypoparathyroidism--pathology<br/>In Situ Hybridization, Fluorescence<br/>Intellectual Disability--pathology<br/>Karyotyping<br/>Microtubule-Associated Proteins--genetics<br/>Molecular Chaperones--genetics<br/>Mutation<br/>Nucleic Acid Hybridization--methods<br/>Syndrome