MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE. [electronic resource]
Producer: 20181016Description: 373-380 p. digitalISSN:- 1015-8146
- Abnormalities, Multiple -- diagnosis
- Craniofacial Abnormalities -- diagnosis
- DNA Mutational Analysis
- Diagnosis, Differential
- Female
- Follow-Up Studies
- Humans
- Infant
- Infant, Newborn
- Male
- Mucolipidoses -- diagnosis
- Musculoskeletal Abnormalities -- diagnosis
- Phenotype
- Rickets -- diagnosis
- Transferases (Other Substituted Phosphate Groups) -- genetics
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Publication Type: Case Reports; Journal Article
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