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Article

Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2022

Robinson Marie-Eve, Rauch Damian, Glorieux Francis H, Rauch Frank

Abstract excerpt

PURPOSE: Short stature is common in osteogenesis imperfecta (OI) and is usually severe in OI types III and IV. The characteristics of pubertal growth in OI have not been studied in detail. METHODS: We assessed 82 individuals with OI caused by pathogenic variants in COL1A1 or COL1A2 who had annual height data between 6 and 16 years of age at a minimum. Height velocity curves were fitted to each individual's height...

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Identifiers

PMID: 35657380
DOI: 10.1016/j.gim.2022.05.008

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