Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13

Phelan–McDermid syndrome (PMS) is a multisystem disorder that is associated with deletions of the 22q13 genomic region or pathogenic variants in the SHANK3 gene. Notable features include developmental issues, absent or delayed speech, neonatal hypotonia, seizures, autism or autistic traits, gastroin...

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Detalles Bibliográficos
Autores principales: Sarasua, Sara M., DeLuca, Jane M., Rogers, Curtis, Phelan, Katy, Rennert, Lior, Powder, Kara E., Weisensee, Katherine, Boccuto, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048319/
https://www.ncbi.nlm.nih.gov/pubmed/36980813
http://dx.doi.org/10.3390/genes14030540

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