Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
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| Title: | Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. |
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| Authors: | Valetto A; Cytogenetics and Molecular Genetic Unit, A.O.U. Pisana, Ospedale S. Chiara, via Roma 57, Pisa, Italy. a.valetto@ao-pisa.toscana.it, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G |
| Source: | European journal of medical genetics [Eur J Med Genet] 2012 May; Vol. 55 (5), pp. 362-6. Date of Electronic Publication: 2012 Apr 24. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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