Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
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DOI: 10.1016/j.ejmg.2020.104027
Abstract: The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorders, developmental coordination disorder, autism… read more here.
Keywords: chromosome 16p; clinical genetic; findings hungarian; genetic findings ... See more keywords