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[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, Jahrgang 224, Nr. 3, 3, 2007, S. 207-209.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Keilhauer, CN, Gal, A, Sold, JE, Zimmermann, J, Netzer, K-O & Schramm, L 2007, '[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]', KLIN MONATSBL AUGENH, Jg. 224, Nr. 3, 3, S. 207-209. <http://www.ncbi.nlm.nih.gov/pubmed/17385124?dopt=Citation>

APA

Keilhauer, C. N., Gal, A., Sold, J. E., Zimmermann, J., Netzer, K-O., & Schramm, L. (2007). [Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]. KLIN MONATSBL AUGENH, 224(3), 207-209. [3]. http://www.ncbi.nlm.nih.gov/pubmed/17385124?dopt=Citation

Vancouver

Keilhauer CN, Gal A, Sold JE, Zimmermann J, Netzer K-O, Schramm L. [Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]. KLIN MONATSBL AUGENH. 2007;224(3):207-209. 3.

Bibtex

@article{760c3a6fc40a434ba831e3b3b107e0af,
title = "[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]",
abstract = "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.",
author = "Keilhauer, {C N} and Andreas Gal and Sold, {J E} and J Zimmermann and K-O Netzer and L Schramm",
year = "2007",
language = "Deutsch",
volume = "224",
pages = "207--209",
journal = "KLIN MONATSBL AUGENH",
issn = "0023-2165",
publisher = "Ferdinand Enke Verlag",
number = "3",

}

RIS

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 -