A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome
Tekijät: Helenius Kjell, Parkkola Riitta, Arola Anita, Peltola Ville, Haanpää Maria K
Kustantaja: Elsevier
Julkaisuvuosi: 2022
Journal: European Journal of Medical Genetics
Tietokannassa oleva lehden nimi: European journal of medical genetics
Lehden akronyymi: Eur J Med Genet
Artikkelin numero: 104626
Vuosikerta: 65
Numero: 11
ISSN: 1769-7212
eISSN: 1878-0849
DOI: https://doi.org/10.1016/j.ejmg.2022.104626
Verkko-osoite: https://www.sciencedirect.com/science/article/pii/S1769721222002075?via%3Dihub
Rinnakkaistallenteen osoite: 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.
Ladattava julkaisu This is an electronic reprint of the original article. |  |
