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Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome.
Burdeus-Olavarrieta M, Nevado J, van Weering-Scholten S, Parker S; European Phelan-McDermid syndrome consortium; Swillen A. Burdeus-Olavarrieta M, et al. Eur J Med Genet. 2023 May;66(5):104745. doi: 10.1016/j.ejmg.2023.104745. Epub 2023 Mar 5. Eur J Med Genet. 2023. PMID: 36871884 Free article.
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other …
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic varia …
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Miroševič Š, et al. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. ...The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various motor d …
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and …
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
Xu N, Lv H, Yang T, Du X, Sun Y, Xiao B, Fan Y, Luo X, Zhan Y, Wang L, Li F, Yu Y. Xu N, et al. Orphanet J Rare Dis. 2020 Nov 30;15(1):335. doi: 10.1186/s13023-020-01592-5. Orphanet J Rare Dis. 2020. PMID: 33256793 Free PMC article.
BACKGROUND: Phelan-McDermid syndrome (PMS) or 22q13 deletion syndrome is a rare developmental disorder characterized by hypotonia, developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD) and dysmorphic features. ...Our fi …
BACKGROUND: Phelan-McDermid syndrome (PMS) or 22q13 deletion syndrome is a rare developmental disorder characterized by hypotonia …