Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome

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dc.contributor.authorHelenius Kjell
dc.contributor.authorParkkola Riitta
dc.contributor.authorArola Anita
dc.contributor.authorPeltola Ville
dc.contributor.authorHaanpää Maria K
dc.contributor.organizationfi=InFLAMES Lippulaiva|en=InFLAMES Flagship|
dc.contributor.organizationfi=biolääketieteen laitos|en=Institute of Biomedicine|
dc.contributor.organizationfi=infektiotautioppi|en=Infectious Diseases|
dc.contributor.organizationfi=kuvantaminen ja kliininen diagnostiikka|en=Imaging and Clinical Diagnostics|
dc.contributor.organizationfi=lastentautioppi|en=Paediatrics and Adolescent Medicine|
dc.contributor.organizationfi=tyks, vsshp|en=tyks, varha|
dc.contributor.organization-code1.2.246.10.2458963.20.40612039509
dc.contributor.organization-code1.2.246.10.2458963.20.62009224114
dc.contributor.organization-code1.2.246.10.2458963.20.68445910604
dc.contributor.organization-code1.2.246.10.2458963.20.69079168212
dc.contributor.organization-code2607100
dc.converis.publication-id176747910
dc.converis.urlhttps://research.utu.fi/converis/portal/Publication/176747910
dc.date.accessioned2022-11-29T15:53:38Z
dc.date.available2022-11-29T15:53:38Z
dc.description.abstractNoonan syndrome is a genetically heterogeneous developmental disorder, which usually includes findings such as short stature, facial dysmorphia, cardiac abnormalities and a varying degree of intellectual disability. We present a unique case of a rare variant of Noonan syndrome in a very preterm female infant born at 28 + 4 gestational weeks, with abnormal radiological findings visible at fetal magnetic resonance imaging (MRI) and evolution of the brain lesions during infancy.
dc.identifier.eissn1878-0849
dc.identifier.jour-issn1769-7212
dc.identifier.olddbid190317
dc.identifier.oldhandle10024/173408
dc.identifier.urihttps://www.utupub.fi/handle/11111/34996
dc.identifier.urlhttps://www.sciencedirect.com/science/article/pii/S1769721222002075?via%3Dihub
dc.identifier.urnURN:NBN:fi-fe2022110164064
dc.language.isoen
dc.okm.affiliatedauthorHelenius, Kjell
dc.okm.affiliatedauthorParkkola, Riitta
dc.okm.affiliatedauthorArola, Anita
dc.okm.affiliatedauthorPeltola, Ville
dc.okm.affiliatedauthorHaanpää, Maria
dc.okm.affiliatedauthorDataimport, tyks, vsshp
dc.okm.discipline3123 Gynaecology and paediatricsen_GB
dc.okm.discipline3126 Surgery, anesthesiology, intensive care, radiologyen_GB
dc.okm.discipline3123 Naisten- ja lastentauditfi_FI
dc.okm.discipline3126 Kirurgia, anestesiologia, tehohoito, radiologiafi_FI
dc.okm.internationalcopublicationnot an international co-publication
dc.okm.internationalityInternational publication
dc.okm.typeA1 ScientificArticle
dc.publisherElsevier
dc.publisher.countryFranceen_GB
dc.publisher.countryRanskafi_FI
dc.publisher.country-codeFR
dc.relation.articlenumber104626
dc.relation.doi10.1016/j.ejmg.2022.104626
dc.relation.ispartofjournalEuropean Journal of Medical Genetics
dc.relation.issue11
dc.relation.volume65
dc.source.identifierhttps://www.utupub.fi/handle/10024/173408
dc.titleDetailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome
dc.year.issued2022

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