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|Title:||Complete achromatopsia associated with skeletal anomalies: A new autosomal recessive syndrome|
|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.|
|Appears in Collections:||Producción científica UdeG (prueba)|
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