Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case
Chacon-Camacho, Oscar F., Lopez-Martinez, Monica S., Vázquez, Johanna, Nava-Castañeda, Angel, Martin-Biasotti, Fernando, Piña-Aguilar, Raul E., Iñiguez-Soto, Marisol, Acosta-García, Job, Zenteno, Juan C.
Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
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Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation
Piña-Aguilar, Raul E, Zaragoza-Arévalo, Gerardo R, Rau, Isabella, Gal, Andreas, Alcántara-Ortigoza, Miguel A, López-Martínez, Mónica S, Santillán-Hernández, Yuritzi
Published in European journal of medical genetics (01.03.2013)
Published in European journal of medical genetics (01.03.2013)
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