Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation (Journal article)

Manolakos, E./ Vetro, A./ Kefalas, K./ Thomaidis, L./ Aperis, G./ Sotiriou, S./ Kitsos, G./ Merkas, M./ Sifakis, S./ Papoulidis, I./ Liehr, T./ Zuffardi, O./ Petersen, M. B.

Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Abnormalities, Multiple/genetics/*pathology,Child, Preschool,*Chromosome Deletion,Chromosomes, Human, Pair 2/*genetics,Comparative Genomic Hybridization,Female,Humans,In Situ Hybridization, Fluorescence,Intellectual Disability/genetics/*pathology,Karyotyping,Microcephaly/genetics/*pathology,*Phenotype
URI: https://olympias.lib.uoi.gr/jspui/handle/123456789/22597
ISSN: 1552-4833
Link: http://www.ncbi.nlm.nih.gov/pubmed/21567918
http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.33981/asset/33981_ftp.pdf?v=1&t=h09ozav2&s=86c1230a7f690343de9adfce0cfa13023d88cf7e
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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