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...

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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-08-01
Edice:	Frontiers in Cell and Developmental Biology
Témata:	Beckwith-Wiedemann syndrome pseudohypoparathyroidism type 1B multilocus imprinting disturbance uniparental disomy imprinting disorders genomic imprinting
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fcell.2023.1237629/full
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