Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
Morava, Eva
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. [electronic resource] - The Journal of clinical endocrinology and metabolism Jan 2011 - E189-98 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1945-7197
10.1210/jc.2010-1539 doi
Ankylosis--genetics
Bone Diseases, Metabolic--genetics
Calcinosis--genetics
Consanguinity
Deafness--genetics
Humans
Hypophosphatemia--genetics
Intellectual Disability--genetics
Joints--pathology
Mutation
Pedigree
Phenotype
Phosphate Transport Proteins--genetics
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. [electronic resource] - The Journal of clinical endocrinology and metabolism Jan 2011 - E189-98 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1945-7197
10.1210/jc.2010-1539 doi
Ankylosis--genetics
Bone Diseases, Metabolic--genetics
Calcinosis--genetics
Consanguinity
Deafness--genetics
Humans
Hypophosphatemia--genetics
Intellectual Disability--genetics
Joints--pathology
Mutation
Pedigree
Phenotype
Phosphate Transport Proteins--genetics