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AB119. Computer-aided facial recognition of Chinese individuals with 22q11.2 deletion-algorithm training using NIH atlas of human malformation syndromes from diverse population

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with an estimated frequency of 1/4,000. It is a multi-systemic disorder with high phenotypic variability. Our previous work showed substantial under-diagnosis of 22q11.2DS as 1 in 10 adult patients with conotruncal defect...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Mok, Gary Tsz Kin, Chung, Brian Hon-Yin
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641769/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s119
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