Longitudinal Report Of Child With De Novo 16p11.2 Triplication
CLINICAL CASE REPORTS(2018)
摘要
16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above-average physical growth.
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关键词
16p11.2 deletion, 16p11.2 duplication, 16p11.2 triplication, ASD risk variant, gene triplication
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