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Title: Complete achromatopsia associated with skeletal anomalies: A new autosomal recessive syndrome
Author: Garcia-Ortiz, J.E.
Garcia-Cruz, D.
Mendoza-Topete, R.
Quiroz-Mercado, H.
Garcia-Cruz, M.O.
Sanchez-Corona, J.
Issue Date: 2004
Abstract: Achromatopsia or rod monochromatism is the complete absence of color discrimination, with an estimated frequency of 1 in 100,000. To date the McKusick Catalogue includes more than 10 entities related to Achromatopsia. This paper describes four Mexican sibs with a stationary rod monochromatism, associated with long fingers and toes, hypothenar and thenar hypoplasia and pes planus, suggesting a new genetic entity probably inherited in an autosomal recessive mode.
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