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Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
BACKGROUND: 16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare among the general population, it is one of the serious known genetic aetiologies...
Autores principales: | Szelest, Monika, Stefaniak, Martyna, Ręka, Gabriela, Jaszczuk, Ilona, Lejman, Monika |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945342/ https://www.ncbi.nlm.nih.gov/pubmed/33691695 http://dx.doi.org/10.1186/s12920-021-00929-8 |
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