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Article

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.

American journal of medical genetics. Part A - 1 Nov 2025

Rudy Natasha L, Gomes Adriana, Tkemaladze Tinatin, Abdul-Rahman Omar, Cratsenberg Drew, Pascolini Giulia, Di Zenzo Giovanni, Castiglia Daniele, Black Emily, Washington Camerun, Chad Lauren, Curry Cynthia, Del Campo Miguel, Fleischer Nicole, Bird Lynne M, Hurst Anna C E

Abstract excerpt

Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step toward arriving at a genetic diagnosis. Synthesizing a differential...

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PMID: 40613735
DOI: 10.1002/ajmg.a.64171

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