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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...
Autores principales: | Bucerzan, Simona, Miclea, Diana, Lazea, Cecilia, Asavoaie, Carmen, Kulcsar, Andrea, Grigorescu-Sido, Paula |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
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 |
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