Associated Papers
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
A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).
Chen IP et al.
Human Molecular Genetics, 2011
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
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