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Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

BACKGROUND: Ring chromosome 2 is a rare constitutional abnormality that generally occurs de novo. About 14 cases have been described to date, but the vast majority of papers report exclusively conventional cytogenetic investigations and only two have been characterized by array-CGH. RESULTS: Here we...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Mol Cytogenet
मुख्य लेखकों: Severino, Mariasavina, Accogli, Andrea, Gimelli, Giorgio, Rossi, Andrea, Kotzeva, Svetlana, Di Rocco, Maja, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2015
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC4359793/
https://ncbi.nlm.nih.gov/pubmed/25774222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0121-z
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