New treatments for children with achondroplasia

R Savarirayan, J Hoover-Fong, P Yap… - The Lancet Child & …, 2024 - thelancet.com
Achondroplasia is the most common form of dwarfism in humans, caused by a common
pathogenic variant in the gene encoding fibroblast growth factor receptor 3, FGFR3, which …

Growth reference charts for children with hypochondroplasia

MS Cheung, TJ Cole, P Arundel… - American Journal of …, 2024 - Wiley Online Library
Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a
paucity of growth reference charts for this population. Anthropometric data were collected to …

Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant

HY Kim, YA Lee, CH Shin, TJ Cho… - … Clinical Endocrinology & …, 2023 - thieme-connect.com
Background Hypochondroplasia is a skeletal dysplasia caused by activating pathologic
variants of FGFR3. The N540K variant accounts for 60–70% of reported cases and is …

软骨发育低下患儿的临床特征及FGFR3 基因变异分析

陶东英, 张惠琴, 张静静, 牛焕红, 成胜权 - 发育医学电子杂志, 2024 - fyyxzz.com
软骨发育低下患儿的临床特征及FGFR3 基因变异分析 Page 1 《发育医学电子杂志》2024 年5 月
第12 卷第3 期J Dev Med (Electronic Version), May 2024, Vol.12, No.3 ·193· 软骨发育低下患 …

Microscopic and Elemental Characterization of PLLA Functionalized with Electrosynthetized AgNPs

IR Ramos-Moctezuma, C Leyva-Porras… - 2024 - academic.oup.com
Surgical site infections in orthopedic implant-related procedures are an important public
health problem that increases mobility and mortality around the world [1, 2]. To overcome …

[PDF][PDF] Functionalized with Electrosynthetized AgNPs

IR Ramos-Moctezuma, C Leyva-Porras… - Microscopy and …, 2024 - researchgate.net
Surgical site infections in orthopedic implant-related procedures are an important public
health problem that increases mobility and mortality around the world [1, 2]. To overcome …

The Norwegian Adult Achondroplasia Study: A population-based study of medical complications, physical functioning, cardiovascular risk factors, and body …

SO Fredwall - 2022 - duo.uio.no
While medical complications are well described in children with achondroplasia, our
scoping review found few studies concerning adults. The Norwegian Adult Achondroplasia …