16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature

We describe the case of a seven-year-old female patient who presented in our service with severe developmental delay, intellectual disability, facial dysmorphism, and femur fracture, observed in the context of very low bone mineral density. Array-based single nucleotide polymorphism (SNP array) anal...

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Detalles Bibliográficos
Autores principales: Bucerzan, Simona, Miclea, Diana, Lazea, Cecilia, Asavoaie, Carmen, Kulcsar, Andrea, Grigorescu-Sido, Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373721/
https://www.ncbi.nlm.nih.gov/pubmed/32760686
http://dx.doi.org/10.3389/fped.2020.00390

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373721/
https://www.ncbi.nlm.nih.gov/pubmed/32760686
http://dx.doi.org/10.3389/fped.2020.00390

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