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Archivos de la Sociedad Española de Oftalmología (English Edition) A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic pres...
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A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic presentation in a Hispanic-Mexican woman with Kabuki syndrome: A case report
Variante patogénica de KMT2D c.6341del (p.Gly2114Alafs*30) y evaluación multimodal de su fenotipo en una mujer hispano-mexicana con síndrome de Kabuki: informe de una nueva variante
L.A. Garza-Garzaa,b, A.P. Arizpea,c, R. Morales-Reyesa,c, R.A. Villafuerte-de la Cruzb, M. Garza-Leóna,c,
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manuel.garza@udem.edu

Corresponding author.
a Destellos de Luz, San Pedro Garza García, Nuevo León, Mexico
b Escuela de Medicina y Ciencias de la Salud, Tecnológico de Monterrey, Monterrey, Nuevo León, Mexico
c Universidad de Monterrey, San Pedro Garza García, Nuevo León, Mexico
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ISSN: 21735794
Original language: English
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