Nur, B G <br/><br/>
MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE.  [electronic resource] 

 -  Genetic counseling (Geneva, Switzerland)   
 - 373-380 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1015-8146 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Craniofacial Abnormalities--diagnosis<br/>DNA Mutational Analysis<br/>Diagnosis, Differential<br/>Female<br/>Follow-Up Studies<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Mucolipidoses--diagnosis<br/>Musculoskeletal Abnormalities--diagnosis<br/>Phenotype<br/>Rickets--diagnosis<br/>Transferases (Other Substituted Phosphate Groups)--genetics