Dictionary of Human Evolution and Biology

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Hypophosphatasia, Familial

Heritable autosomal dominant condition characterized by early tooth los in adults, and vitamin D-resistant rickets; causes a type of bow-leggedness that cannot be cured by the administration of vitamin D. Onset during the first year of life. A cell membrane transport defect due to a mutated gene that codes for alkaline phosphatase, an X-linked dominant, which results in abnormal reabsorption of phosphate in the kidneys, thus producing abnormally low concentrations of phosphorus in the blood. Deficient calcium absorption in the intestines results in softened bones. Aka X-linked hypophosphatemia.

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