[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
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[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]. / Keilhauer, C N; Gal, Andreas; Sold, J E; Zimmermann, J; Netzer, K-O; Schramm, L.
In: KLIN MONATSBL AUGENH, Vol. 224, No. 3, 3, 2007, p. 207-209.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - [Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
AU - Keilhauer, C N
AU - Gal, Andreas
AU - Sold, J E
AU - Zimmermann, J
AU - Netzer, K-O
AU - Schramm, L
PY - 2007
Y1 - 2007
N2 - The oculo-cerebro-renal syndrome of Lowe (OCRL) is a rare X-chromosomal disorder characterised by the triad of congenital cataracts, renal tubular dysfunction, and mental retardation. Typically complete opacification and discoid deformation of the lenses are seen, indicating a developmental defect in early embryogenesis. We report on a 35-year-old patient with a mild Lowe syndrome phenotype including incomplete lenticular opacities. Clinical findings suggest that the gene product of the mutated allele (IVS19 + 1G > A) identified in the patient exhibits some residual function.
AB - The oculo-cerebro-renal syndrome of Lowe (OCRL) is a rare X-chromosomal disorder characterised by the triad of congenital cataracts, renal tubular dysfunction, and mental retardation. Typically complete opacification and discoid deformation of the lenses are seen, indicating a developmental defect in early embryogenesis. We report on a 35-year-old patient with a mild Lowe syndrome phenotype including incomplete lenticular opacities. Clinical findings suggest that the gene product of the mutated allele (IVS19 + 1G > A) identified in the patient exhibits some residual function.
M3 - SCORING: Zeitschriftenaufsatz
VL - 224
SP - 207
EP - 209
JO - KLIN MONATSBL AUGENH
JF - KLIN MONATSBL AUGENH
SN - 0023-2165
IS - 3
M1 - 3
ER -