Guo L et al. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. Am J Hum Genet. 2023;110(7):1068-1085. doi: 10.1016/j.ajhg.2023.06.001. PMID: 37352860.
Hoxha V and Aliu E. ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities. Am J Med Genet A. 2023;191(1):64-69. doi: 10.1002/ajmg.a.62987. PMID: 36208065.
Choucair N et al. Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation. Am J Med Genet A. 2017;173(7):1955-1960. doi: 10.1002/ajmg.a.38271. PMID: 28488351.
ERI1 Hoxha-Aliu syndrome