A neuromuscular and kinematic description of human adults with achondroplasia
Skeletal dysplasia is an umbrella term used to describe individuals with an abnormality to the skeleton. There are more than 350 reported skeletal dysplasias with the more common name for the term being ‘dwarfism’. The prevalence of skeletal dysplasia is
David Thomas Sims (12592213)
core +1 more source
Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia
The Journal of Clinical InvestigationAchondroplasia, the most prevalent short-stature disorder, is caused by missense variants overactivating the fibroblast growth factor receptor 3 (FGFR3).
Marco Angelozzi +6 more
doaj +1 more source
Achondroplasia in a Twin [PDF]
Proceedings of the Royal Society of Medicine, 1910 openaire +2 more sources
Healthcare and Psychosocial Needs in Achondroplasia Across the Lifespan: Developmental Functioning, Multidisciplinary Care, and Family-Centered Outcomes. [PDF]
Healthcare (Basel)Șerban RC +11 more
europepmc +1 more source
From FGFR3 Hyperactivation to Disease-Modifying Therapy in Pediatric Achondroplasia: Molecular Mechanisms, Clinical Evidence, and Emerging Treatments. [PDF]
Children (Basel)Șerban RC +10 more
europepmc +1 more source
A Case of Inadvertent Overdose of Vosoritide Injection in a Three-Month-Old Infant With Achondroplasia. [PDF]
CureusSatake S, Oda Y.
europepmc +1 more source
Navepegritide in children with achondroplasia. [PDF]
Transl PediatrSemler O, Hoyer-Kuhn H.
europepmc +1 more source
Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review. [PDF]
Cancer Chemother PharmacolGroot Beumer KWM +5 more
europepmc +1 more source