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
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
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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