2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report
Abstract Background The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpebral fissures, a long and flat philtrum, micrognath...
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Materiálatiipa: | Girji |
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2024-10-01T00:00:00Z.
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