COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Mishra R, Kulshreshtha S, Mandal K, Khurana A, Diego-Álvarez D, Pradas L, Saxena R, Phadke S, Moirangthem A, Masih S, Sud S, Verma IC, Dua Puri R.
Mishra R, et al. Among authors: kulshreshtha s.
Am J Med Genet A. 2022 Aug;188(8):2339-2350. doi: 10.1002/ajmg.a.62768. Epub 2022 May 2.
Am J Med Genet A. 2022.
PMID: 35499143