ΚΛΙΝΙΚΗ ΔΥΣΜΟΡΦΟΛΟΓΙΑ: Αξιολόγηση μορφολογικών...
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Transcript of ΚΛΙΝΙΚΗ ΔΥΣΜΟΡΦΟΛΟΓΙΑ: Αξιολόγηση μορφολογικών...
1. : . / , Dr. David Smith,USA,1960 Dysmorphic {Dys Morph}: 3-5% 35% 1-5 ( ) 15-30% 2. 6 7 (-) - 6-7% 1% 1/200 : 50% 3. (sequence) , . (Pottersequence) (association) . (VATER association) (malformation) (...Down, -,...) 10 (deformation) . , (.. . Potter, ,...) (disruption) (.. ) (dysplasias) 4. : , , - - / / 5. , OMIM: Online MendelianInheritanceinMan,Centre forMedical Genetics,Johns- HopkinsUniversity(Baltimore,M.D.) National CenterforBiotechnologyInformation,NationalLibraryof Medicine (Bethesda,M.D.). http://www//ncbi-nlm.nih.gov./OMIM/. LMD: LondonMedical DatabasesbyWinterR & BaraitserM. info@lmdatabases.com POSSUM:Murdoch ChildrensResearchInstitute. http://www.possum.net.au/ ? ( . Prader Willi ..) ( US ) : 6. = + ()