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...

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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artikel
Språk:English
Publicerad: Frontiers Media S.A. 2023-08-01
Serie:Frontiers in Cell and Developmental Biology
Ämnen:
Beckwith-Wiedemann syndrome
pseudohypoparathyroidism type 1B
multilocus imprinting disturbance
uniparental disomy
imprinting disorders
genomic imprinting
Länkar:https://www.frontiersin.org/articles/10.3389/fcell.2023.1237629/full

Internet

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

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