Morava, Eva <br/><br/>
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.  [electronic resource] 

 -  The Journal of clinical endocrinology and metabolism  Jan 2011 
 - E189-98 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1945-7197 
<br/><br/><label>Standard No.: </label>10.1210/jc.2010-1539  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Ankylosis--genetics<br/>Bone Diseases, Metabolic--genetics<br/>Calcinosis--genetics<br/>Consanguinity<br/>Deafness--genetics<br/>Humans<br/>Hypophosphatemia--genetics<br/>Intellectual Disability--genetics<br/>Joints--pathology<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Phosphate Transport Proteins--genetics