Associated Papers
Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy.
Kegele J et al.
Epilepsia, 2025
ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.
Reichenberger EJ et al.
Jbmr Plus, 2024
The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.
Szeri F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
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
Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation.
Thomeer HG et al.
International Journal of Pediatric Otorhinolaryngology, 2013
Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.
Gruber BL et al.
Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2012
Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.
Dutra EH et al.
Clinical Genetics, 2012
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
Morava E et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
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