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Article

A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia.

The Journal of pediatrics - 1 May 2012

Rothenbuhler Anya, Linglart Agnès, Piquard Catherine, Bougnères Pierre

Abstract excerpt

OBJECTIVE: To assess the growth promoting effect of a recombinant growth hormone (rGH) treatment protocol adjusted on insulin-like growth factor 1 (IGF-1) dosing in children affected by the most severe forms of FGFR3 N540K-mutated hypochondroplasia. STUDY DESIGN: Midterm results of an open-label, single-center, nonrandomized, 2003-2020 pilot trial to final stature, including 6 children (mean age, 2.6 ± 0.7 years;...

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Identifiers

PMID: 22137367
DOI: 10.1016/j.jpeds.2011.10.023

Genes

SDS
FGFR3

Variants

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