Search Results - "Bautista Tirado, Teresa"
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Mosaic cat eye syndrome in a child with unilateral iris coloboma
Published in Ophthalmic genetics (01-02-2021)“…Cat eye syndrome (CES) is a rare chromosomal disorder with a known incidence of 1 per 50,000-150,000 live newborns. The classic triad of iris coloboma,…”
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Detection of the PMP22 gene duplication in peripheral neuropathy patients: a study in Mexican population
Published in Revista de neurologiá (01-08-2014)“…Charcot-Marie-Tooth disease (CMT) is a neuropathy that affects sensory and motor nerves. The most common CMT subtype is CMT1A due to a PMP22 duplication of a…”
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Detección de la duplicación del gen PMP22 en pacientes con neuropatía periférica: estudio en la población mexicana
Published in Revista de neurologiá (2014)Get full text
Journal Article -
4
Mosaic cat eye syndrome in a child with unilateral iris coloboma
Published in Ophthalmic Genetics (02-01-2021)“…Cat eye syndrome (CES) is a rare chromosomal disorder with a known incidence of 1 per 50,000-150,000 live newborns. The classic triad of iris coloboma,…”
Get full text
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