Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
May HJ, Jeong J, Revah-Politi A, Cohen JS, Chassevent A, Baptista J, Baugh EH, Bier L, Bottani A, Carminho A Rodrigues MT, Conlon C, Fluss J, Guipponi M, Kim CA, Matsumoto N, Person R, Primiano M, Rankin J, Shinawi M, Smith-Hicks C, Telegrafi A, Toy S, Uchiyama Y, Aggarwal V, Goldstein DB, Roche KW, Anyane-Yeboa K.
May HJ, et al. Among authors: conlon c.
Genet Med. 2021 Oct;23(10):1912-1921. doi: 10.1038/s41436-021-01222-w. Epub 2021 Jun 10.
Genet Med. 2021.
PMID: 34113010
Free PMC article.