Case Report: Potocki-Lupski Syndrome in Five Siblings

Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently associated with failure to thrive due to swallowi...

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Detalles Bibliográficos
Autores principales: Grama, Alina, Sîrbe, Claudia, Miclea, Diana, Cǎinap, Simona Sorana, Huniadi, Delia, Bulata, Bogdan, Pop, Tudor Lucian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606827/
https://www.ncbi.nlm.nih.gov/pubmed/34820340
http://dx.doi.org/10.3389/fped.2021.698629

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606827/
https://www.ncbi.nlm.nih.gov/pubmed/34820340
http://dx.doi.org/10.3389/fped.2021.698629

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