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16p subtelomeric duplication: a clinically recognizable syndrome

We report on two patients with duplication of the subterminal region of chromosome 16p (dup16p) recognized by fluorescent in situ hybridization (FISH) telomere analysis, presenting with closely overlapping facial features and neurological impairment. Distinct facial anomalies included high forehead,...

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Detalhes bibliográficos
Main Authors: Digilio, Maria Cristina, Bernardini, Laura, Capalbo, Anna, Capolino, Rossella, Gagliardi, Maria Giulia, Marino, Bruno, Novelli, Antonio, Dallapiccola, Bruno
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986590/
https://ncbi.nlm.nih.gov/pubmed/19293839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.14
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