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1.
Luk HM. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases. Case Reports in Genetics [Internet]. 2016 [cited 2024 Sep 22];2016(1):9790169. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1155/2016/9790169
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