The Pitt-Hopkins Syndrome: Report of 5 Patients and Literature Comparison
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Acta Medica Alanya
Reference16 articles.
1. 1. Goodspeed K, Newsom C, Morris MA, Powell C, Evans P, Golla S. Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series. Journal of Child Neurology. 2018;33(3):233-244. doi:10.1177/0883073817750490
2. 2. Tripon F, Bogliș A, Micheu C, Streață I, Bănescu C. Pitt-hopkins syndrome: Clinical and molecular findings of a 5-year-old patient. Genes. 2020;11(6). doi:10.3390/genes11060596
3. 3. Zweier C, Sticht H, Bijlsma EK, et al. Further delineation of Pitt-Hopkins syndrome: Phenotypic and genotypic description of 16 novel patients. Journal of Medical Genetics. 2008;45(11):738-744. doi:10.1136/jmg.2008.060129
4. 4. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine. 2015;17(5):405-424. doi:10.1038/gim.2015.30
5. 5. Robinson JT, Thorvaldsdóttir H, Wenger AM, Zehir A, Mesirov JP. Variant review with the integrative genomics viewer. Cancer Research. 2017;77(21):e31-e34. doi:10.1158/0008-5472.CAN-17-0337
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