A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Molecular karyotyping is being increasingly applied to delineate novel disease causing microaberrations and related syndromes in patients with mental retardation of unknown aetiology. We report on three unrelated patients with overlapping de novo interstitial microdeletions involving 5q14.3-q15. All...

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Hlavní autoři: Engels, Hartmut, Wohlleber, Eva, Zink, Alexander, Hoyer, Juliane, Ludwig, Kerstin U, Brockschmidt, Felix F, Wieczorek, Dagmar, Moog, Ute, Hellmann-Mersch, Birgit, Weber, Ruthild G, Willatt, Lionel, Kreiß-Nachtsheim, Martina, Firth, Helen V, Rauch, Anita
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987012/
https://ncbi.nlm.nih.gov/pubmed/19471318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.90
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