Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features. [electronic resource]
Producer: 20161220Description: 122-127 p. digitalISSN:- 1873-3492
- Alkaline Phosphatase -- metabolism
- Bone Diseases, Developmental -- complications
- Craniofacial Abnormalities -- complications
- Exons -- genetics
- Female
- Heterozygote
- Humans
- Hyperostosis -- complications
- Hypertelorism -- complications
- Hypocalcemia -- complications
- Hypophosphatemia -- complications
- Infant
- Male
- Mutation
- Parathyroid Hormone -- metabolism
- Pedigree
- Phosphate Transport Proteins -- genetics
- Rickets -- complications
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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