Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-020-01389-6.pdf
Reference32 articles.
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2. Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism. 2013;4(1):18.
3. Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, et al. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. J Neurodev Disord. 2014;6(1):39.
4. Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, et al. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet. 2003;40(8):575–84.
5. Phelan MC. Deletion 22q13.3 syndrome. Orphanet J Rare Dis. 2008;3:14.
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3. Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22;European Journal of Medical Genetics;2023-07
4. “Your Life Turns Upside Down”: A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome;Children;2022-12-30
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