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author_manuscript
https://pubmed.ncbi.nlm.nih.gov/22150416/
Bone Diseases, Developmental / genetics Craniofacial Abnormalities / genetics Hyperostosis / genetics Hypertelorism / genetics Phosphate Transport Proteins / genetics Sequence Deletion
Bone Diseases, Developmental / genetics Craniofacial Abnormalities / genetics Hyperostosis / genetics Hypertelorism / genetics Phosphate Transport Proteins / genetics Sequence Deletion Case Reports Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Base Sequence Bone Diseases, Developmental / diagnosis Child, Preschool Craniofacial Abnormalities / diagnosis Female Humans Hyperostosis / diagnosis Hypertelorism / diagnosis Infant ANKH protein, human Phosphate Transport Proteins Schwartz-Lelek syndrome
PMC3417334
22150416
Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia
2012