Lowe syndrome with anal atresia: A possible variant of OCRL?

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Bibliographic Details
Published in:Pediatrics International 2003, Vol.45 (2), p.201-204
Main Authors: Sönmez, Ferah, Temoçin, A Kübra, özkan, Seyhan B, Akçanal, Betül, Karaman, Can Z, Türkmen, Münevver, i̇nan, Gülten
Format: Report
Language:English
Subjects:
anal atresia
congenital cataracts
Lowe syndrome (OCRL)
phosphatidylinositol 4−5-bisphosphate 5-phosphatase
urinary N-acetyl β-D galactosaminidase activity
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ISSN:1328-8067
1442-200X
DOI:10.1046/j.1442-200X.2003.01697.x