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A case of partial trisomy 3p syndrome with rare clinical manifestations

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of pa...

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Detalles Bibliográficos
Autores principales: Han, Dong Hoon, Chang, Ji Young, Lee, Woo In, Bae, Chong Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315620/
https://www.ncbi.nlm.nih.gov/pubmed/22474466
http://dx.doi.org/10.3345/kjp.2012.55.3.107