1. Basel-Vanagaite, Lina, Pillar, Nir, Isakov, Ofer, Weissglas-Volkov, Daphna, Shomron, Noam. 2017. X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. In Gene, 606, 47-52. doi:10.1016/j.gene.2017.01.001. https://pubmed.ncbi.nlm.nih.gov/28089922/
2. Andreoletti, Gaia, Seaby, Eleanor G, Dewing, Jennifer M, Gilbert, Rodney D, Ennis, Sarah. 2016. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. In Journal of medical genetics, 54, 269-277. doi:10.1136/jmedgenet-2016-104100. https://pubmed.ncbi.nlm.nih.gov/27811305/
3. Moysés-Oliveira, Mariana, Giannuzzi, Giuliana, Fish, Richard J, Melaragno, Maria Isabel, Reymond, Alexandre. 2017. Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. In Human mutation, 39, 281-291. doi:10.1002/humu.23373. https://pubmed.ncbi.nlm.nih.gov/29193635/
4. Koene, Saskia, Knijnenburg, Jeroen, Hoffer, Mariette J V, Santen, Gijs W E, Rotteveel, Liselotte J C. 2022. Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1. In American journal of medical genetics. Part A, 188, 1578-1582. doi:10.1002/ajmg.a.62669. https://pubmed.ncbi.nlm.nih.gov/35084080/
5. Qin, Lu, Zhang, Fei-Zhou, Lv, Jian-Hai, Tang, Lan-Fang. 2021. Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review. In Journal of clinical research in pediatric endocrinology, 14, 339-343. doi:10.4274/jcrpe.galenos.2020.2020.0100. https://pubmed.ncbi.nlm.nih.gov/33535730/
6. Vitelli, F, Piccini, M, Caroli, F, Sorrentino, V, Renieri, A. . Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). In Genomics, 55, 335-40. doi:. https://pubmed.ncbi.nlm.nih.gov/10049589/
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