Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

BACKGROUND: Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Giardino, Daniela, Vignoli, Aglaia, Ballarati, Lucia, Recalcati, Maria Paola, Russo, Silvia, Camporeale, Nicole, Marchi, Margherita, Finelli, Palma, Accorsi, Patrizia, Giordano, Lucio, La Briola, Francesca, Chiesa, Valentina, Canevini, Maria Paola, Larizza, Lidia
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2010
विषय:
Research Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2967536/
https://ncbi.nlm.nih.gov/pubmed/20939888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-146
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