Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases. In rare cases, two fully expressed imprinting...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Laura Pignata, Francesco Cecere, Fabio Acquaviva, Emilia D’Angelo, Daniela Cioffi, Valeria Pellino, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Angela Sparago, Daniele De Brasi, Flavia Cerrato, Andrea Riccio
Format: Artikel
Sprache:English
Veröffentlicht: Frontiers Media S.A. 2023-08-01
Schriftenreihe:Frontiers in Cell and Developmental Biology
Schlagworte:
Beckwith-Wiedemann syndrome
pseudohypoparathyroidism type 1B
multilocus imprinting disturbance
uniparental disomy
imprinting disorders
genomic imprinting
Online Zugang:https://www.frontiersin.org/articles/10.3389/fcell.2023.1237629/full

Online

https://www.frontiersin.org/articles/10.3389/fcell.2023.1237629/full

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