A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Dawood M, Akay G, Mitani T, Marafi D, Fatih JM, Gezdirici A, Najmabadi H, Kahrizi K, Punetha J, Grochowski CM, Du H, Jolly A, Li H, Coban-Akdemir Z, Sedlazeck FJ, Hunter JV, Jhangiani SN, Muzny D, Pehlivan D, Posey JE, Carvalho CMB, Gibbs RA, Lupski JR.
Dawood M, et al. Among authors: sedlazeck fj.
Am J Med Genet A. 2023 Mar;191(3):794-804. doi: 10.1002/ajmg.a.63080. Epub 2023 Jan 4.
Am J Med Genet A. 2023.
PMID: 36598158
Free PMC article.