A1 Refereed original research article in a scientific journal
Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome
Authors: Helenius Kjell, Parkkola Riitta, Arola Anita, Peltola Ville, Haanpää Maria K
Publisher: Elsevier
Publication year: 2022
Journal: European Journal of Medical Genetics
Journal name in source: European journal of medical genetics
Journal acronym: Eur J Med Genet
Article number: 104626
Volume: 65
Issue: 11
ISSN: 1769-7212
eISSN: 1878-0849
DOI: https://doi.org/10.1016/j.ejmg.2022.104626
Web address : https://www.sciencedirect.com/science/article/pii/S1769721222002075?via%3Dihub
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/176747910
Noonan 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.
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