"Craniofacial Abnormalities in Mice with X-linked Hypophosphatemic Gene" by Navin S. Shetty

Date of Award

5-1990

Document Type

Thesis - Restricted

Degree Name

Master of Science (MS)

First Advisor

Ralph A. Meyer, Jr.

Second Advisor

Robert Iorio

Third Advisor

Charles Post

Fourth Advisor

Ronald Pruhs

Abstract

X-linked hypophosphatemia is the most common cause of metabolic rickets and is characterized by hypophosphatemia, normocalcemia, normal to low plasma 1,25-dihydroxyvitamin D3 concentrations, normal parathyroid function, elevated plasma alkaline phosphatase activity and a reduced TmP/GFR (renal tubular maximal phosphate reabsorption/ml glomerular filtrate). Clinically, these changes are associated with growth retardation including attenuated craniofacial growth, femoral and tibial bowing, and radiologic and histomorphometric evidence of rickets and osteomalacia. Similar mutations occur in mice: the Hyp and Gy gene loci.

Comments

A Thesis Submitted to the Faculty of the Graduate School, Marquette University, in Partial Fulfillment of the Requirements for the Degree of Master of Science. Milwaukee, Wisconsin

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