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J Med Genet. 1976 December; 13(6): 449–454.
PMCID: PMC1013469

Lowe's syndrome: identification of carriers by lens examination.

Abstract

Lens examinations were performed on 7 obligate and 7 possible carriers of the X-linked gene for Lowe's syndrome, and on 117 controls. By quantitatively grading punctate cortical opacities, it was possible to discriminate between the obligate carriers and the controls with a fair degree of confidence. In the age group most important for genetic counselling, that of child bearing, the data are too limited for the derivation of precise estimates, but may, nevertheless, be useful. More such data are needed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Brown N. Macrophotography of the anterior segment of the eye. Br J Ophthalmol. 1970 Oct;54(10):697–701. [PMC free article] [PubMed]
  • Brown N. An advanced slit-image camera. Br J Ophthalmol. 1972 Aug;56(8):624–631. [PMC free article] [PubMed]
  • Brown N, Gardner RJ. Lowe syndrome: identification of the carrier state. Birth Defects Orig Artic Ser. 1976;12(3):579–595. [PubMed]
  • DENT CE, SMELLIE JM. Two children with the oculo-cerebrorenal syndrome of Lowe, Terrey and MacLachlan. Proc R Soc Med. 1961 Apr;54:335–337. [PubMed]
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  • Holmes LB, McGowan BL, Efron ML. Lowe's syndrome: a search or the carrier state. Pediatrics. 1969 Sep;44(3):358–364. [PubMed]

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