Are SHROOM4 loss-of-function variants pathogenic?

Am J Med Genet A. 2022 Nov;188(11):3374-3375. doi: 10.1002/ajmg.a.62935. Epub 2022 Aug 16.

Authors

Cristina Peduto¹, Giulio Piluso¹, Vincenzo Nigro^{1

2}, Nicola Brunetti-Pierri^{2

3}

Affiliations

¹ Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
² Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
³ Department of Translational Medicine, University of Naples "Federico II", Naples, Italy.

PMID: 36209347
DOI: 10.1002/ajmg.a.62935

No abstract available

Publication types

Letter

MeSH terms

Exome Sequencing*
Humans
Pedigree