Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features. [electronic resource]
- Clinica chimica acta; international journal of clinical chemistry May 2016
- 122-127 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1873-3492
10.1016/j.cca.2016.01.021 doi
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