Genomic and epigenomic techniques identify a new variation type causing Mendelian disease by altering the non-coding regulatory network in thyroid cells — solving a hidden cause linked for 20 years

Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid disease / A. Cortese, E. Vegezzi, H. Houlden. - In: NATURE GENETICS. - ISSN 1546-1718. - 56:5(2024 May), pp. 738-739. [10.1038/s41588-024-01723-9]

Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid disease

A. Cortese
;
2024

Abstract

Genomic and epigenomic techniques identify a new variation type causing Mendelian disease by altering the non-coding regulatory network in thyroid cells — solving a hidden cause linked for 20 years
DNA; Intergenic; Humans; Thyroid Disease
Settore MEDS-01/A - Genetica medica
mag-2024
7-mag-2024
Article (author)
File in questo prodotto:
File Dimensione Formato  
s41588-024-01723-9.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Licenza: Nessuna licenza
Dimensione 1.74 MB
Formato Adobe PDF
1.74 MB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/1240424
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 0
  • ???jsp.display-item.citation.isi??? ND
  • OpenAlex ND
social impact