Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis...

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Autors principals: Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Eng, Christine, Ou, Zhishuo, Chinault, Craig, Workman, Laura, Coldwell, James, Stankiewicz, Pawel, Patel, Ankita, Lupski, James R, Cheung, Sau Wai
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2009
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986272/
https://ncbi.nlm.nih.gov/pubmed/19034313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.220
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