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1.
Luk HM. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases. 2016 [cited 2017 Oct 24]; Available from: https://www.hindawi.com/journals/crig/2016/9790169/
1.
Tan WH, Bird LM, Thibert RL, Williams CA. If not Angelman, what is it? a review of Angelman-like syndromes. American Journal of Medical Genetics Part A [Internet]. 2014 [cited 2015 May 29];164(4):975–92. Available from: http://doi.wiley.com/10.1002/ajmg.a.36416
