Associated Papers
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
39033325 (PubMed )
Supplement: mmc1.pdf
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
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
Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.
Chen IP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.
Baynam G et al.
American Journal of Medical Genetics. Part A, 2009
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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