A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.

<h4>Background</h4>Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speec...

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Autores principales: Ryan N Traylor, Damien L Bruno, Trent Burgess, Robert Wildin, Anne Spencer, Devika Ganesamoorthy, David J Amor, Matthew Hunter, Michael Caplan, Jill A Rosenfeld, Aaron Theisen, Beth S Torchia, Lisa G Shaffer, Blake C Ballif, Howard R Slater
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2010
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/903c9eedb11a4082bba6de997e486d40
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https://doaj.org/article/903c9eedb11a4082bba6de997e486d40

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