Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Ferreira CR,Mortier GR,Ali H, Bertola DR,Alistair Calder,Cohn Dh,Valérie Cormier‐Daire, Girisha KM,Christine Hall,Deborah Krakow,Outi Mäkitie,Stefan Mundlos,Gen Nishimura, Robertson SP,Ravi Savarirayan,David Sillence,Marleen Simon,Sutton Vr,ML Warman,Andrea Superti‐Furga

Yearbook of pediatric endocrinology（2023）

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摘要

In Brief: The 11th edition of the Nosology is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.

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genetic skeletal disorders,nosology

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