Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.

Wu, Bo

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