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
ISSN: 1552-4833
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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