Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features

Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in a baby boy with features in the Beckwith–Wiedemann syndrome spectrum (BWSp) (placentomegaly, hyperinsulinism, enlarged viscera, hemangiomas, and earlobe creases) in addition to conjugated hyperbilirubinemia....

Descripción completa

Detalles Bibliográficos
Autores principales: Berland, Siren, Rustad, Cecilie F., Bentsen, Mariann H. L., Wollen, Embjørg J., Turowski, Gitta, Johansson, Stefan, Houge, Gunnar, Haukanes, Bjørn I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751407/
https://www.ncbi.nlm.nih.gov/pubmed/34615670
http://dx.doi.org/10.1101/mcs.a006113

Ejemplares similares

Ejemplares similares