Salian, Smrithi <br/><br/>
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.  [electronic resource] 

 -  Congenital anomalies  Jan 2019 
 - 26-27 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1741-4520 
<br/><br/><label>Standard No.: </label>10.1111/cga.12285  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnostic imaging<br/>Carrier Proteins--genetics<br/>Child, Preschool<br/>Craniofacial Abnormalities--diagnostic imaging<br/>Dysostoses--diagnostic imaging<br/>Female<br/>Humans<br/>Male<br/>Muscular Atrophy--diagnostic imaging<br/>Mutation<br/>Pedigree<br/>Phenotype