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Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.
- Source :
-
Clinical genetics [Clin Genet] 2012 Jan; Vol. 81 (1), pp. 93-5. - Publication Year :
- 2012
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 81
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Report
- Accession number :
- 22150416
- Full Text :
- https://doi.org/10.1111/j.1399-0004.2011.01700.x