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1. Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.

Author

Dutra EH, Chen IP, McGregor TL, Ranells JD, and Reichenberger EJ

Subjects
Base Sequence, Bone Diseases, Developmental diagnosis, Child, Preschool, Craniofacial Abnormalities diagnosis, Female, Humans, Hyperostosis diagnosis, Hypertelorism diagnosis, Infant, Bone Diseases, Developmental genetics, Craniofacial Abnormalities genetics, Hyperostosis genetics, Hypertelorism genetics, Phosphate Transport Proteins genetics, Sequence Deletion
Published
2012
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