๐”– Bobbio Scriptorium
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Parathyroid crisis of unusual features in a child

โœ Scribed by Christopher R. McHenry; Irving B. Rosen; Paul G. Walfish; Noel Cooter


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
555 KB
Volume
71
Category
Article
ISSN
0008-543X

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โœ Gropman, Andrea ;Levin, Sondra ;Yao, Lynne ;Lin, Ti ;Suchy, Sharon ;Sabnis, Shar ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 603 KB

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. The gene responsible for OCRL was identified by positional cloning and encodes a lipid phosphatase, phosphatidylinositol 4,5, bisphosphate [