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Article

An interactive atlas of three-dimensional syndromic facial morphology.

American journal of human genetics - 4 Jan 2024

Aponte J David, Bannister Jordan J, Hoskens Hanne, Matthews Harold, Katsura Kaitlin, Da Silva Cassidy, Cruz Tim, Pilz Julie H M, Spritz Richard A, Forkert Nils D, Claes Peter, Bernier Francois P, Klein Ophir D, Katz David C, Hallgrímsson Benedikt

Abstract excerpt

Craniofacial phenotyping is critical for both syndrome delineation and diagnosis because craniofacial abnormalities occur in 30% of characterized genetic syndromes. Clinical reports, textbooks, and available software tools typically provide two-dimensional, static images and illustrations of the characteristic phenotypes of genetic syndromes. In this work, we provide an interactive web application that provides...

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Identifiers

PMID: 38181734
DOI: 10.1016/j.ajhg.2023.11.011
PMCID: PMC10806736

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