Article

Craniofacial features of 3q29 deletion syndrome: application of next generation phenotyping technology

2020-09-23

Abstract excerpt

<h4>Introduction</h4> 3q29 deletion syndrome (3q29del) is a recurrent deletion syndrome associated with neuropsychiatric disorders and congenital anomalies. Dysmorphic facial features have been described but not systematically characterized. This study aims to detail the 3q29del craniofacial phenotype and use a machine learning approach to categorize individuals with 3q29del through analysis of 2D photos. <h4>Meth...

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Literature Corpus work: 5a68cf86-e199-5783-b111-903d3317bd4e
DOI: 10.1101/2020.09.18.20197665

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