Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report

BACKGROUND: Phelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by neonatal hypotonia, developmental delay, minor dysmorphic features, seizures and behavior problems. Literature of this syndrome is scanty and confusing, and...

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Detalles Bibliográficos
Autores principales: Khalifa, Yousif, Hassan, Hisham Y., Weise, Anja, Liehr, Thomas, Alkhayyat, Haya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759880/
https://www.ncbi.nlm.nih.gov/pubmed/36528601
http://dx.doi.org/10.1186/s13039-022-00629-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759880/
https://www.ncbi.nlm.nih.gov/pubmed/36528601
http://dx.doi.org/10.1186/s13039-022-00629-7

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