Associated Papers
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Uludağ Alkaya D et al.
Calcified Tissue International, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Highlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia.
Friedova N et al.
Bmj Case Reports, 2025
Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia.
Soto Barros J et al.
Bone Reports, 2023
Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.
Vijen S et al.
Scientific Reports, 2020
Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.
Kanaujiya J et al.
Scientific Reports, 2018
Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.
Chen IP et al.
Stem Cell Reports, 2017
Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.
Liu Y et al.
Journal of Negative Results in Biomedicine, 2016
Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.
Wu B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia.
Chen IP et al.
Cellular Reprogramming, 2013
Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2013
Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.
Dutra EH et al.
Clinical Genetics, 2012
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
Kornak U et al.
American Journal of Medical Genetics. Part A, 2010
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.
Zajac A et al.
American Journal of Medical Genetics. Part A, 2010
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nürnberg P et al.
Nature Genetics, 2001